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Identification Taxonomy Ontology Physical properties Spectra Biological properties Concentrations Links References enzymes (12)transporters (4) Show 16 proteins XML

enzymes (12)transporters (4) Show 16 proteins

Record Information

Version

5.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2023-05-30 20:55:57 UTC

HMDB ID

HMDB0000062

Secondary Accession Numbers

HMDB0001467
HMDB00062
HMDB01467

Metabolite Identification

Common Name

L-Carnitine

Description

Carnitine is a non-essential amino acid and a quaternary ammonium compound. Carnitine is also classified as an alcohol (specifically, a trimethylated carboxy-alcohol). Carnitine exists as one of two stereoisomers (the two enantiomers D-carnitine and L-carnitine. Both are biologically active, but only L-carnitine naturally occurs in animals, and D-carnitine is toxic as it inhibits the activity of the L-form. Carnitine is involved in the metabolism in most mammals, plants, and some bacteria. Carnitine plays a key role in lipid metabolism and beta-oxidation. It is used to transport long-chain fatty acids into the mitochondria to be oxidized for energy production. This is done by forming a long chain acetylcarnitine esters which are then transported by carnitine palmitoyltransferase I and carnitine palmitoyltransferase II. Carnitine also participates in removing products of metabolism from cells. Given its key metabolic roles, carnitine is concentrated in skeletal and cardiac muscle as well as other tissues that metabolize fatty acids as an energy source. A normal 70 kilogram person typically produces 11-34 mg of carnitine per day. Adults eating mixed diets of red meat and other animal products ingest 60-180 mg of carnitine per day, while vegans consume about 10-12 mg per day. Most carnitine obtained from the diet is absorbed in the small intestine before entering the blood.[3] The total body content of carnitine is about 20 grams in a person weighing 70 kilograms, with nearly all of it contained within skeletal muscle cells. Carnitine is so important in providing energy to muscles (including the heart) that some researchers are now recommending carnitine supplements in the diet, particularly for people who do not consume much red meat (the main food source for carnitine). Carnitine has been described as a vitamin, an amino acid, or a metabimin (i.e. an essential metabolite). Like the B vitamins, carnitine contains nitrogen and is very soluble in water. However, most animals, including humans, make their own carnitine; thus, carnitine cannot be considered to be a vitamin. In certain circumstances, such as methionine deficiency, lysine deficiency, vitamin C deficiency or kidney dialysis, carnitine shortages can develop. Under these conditions, carnitine must be absorbed from food, and for this reason, it is sometimes referred to as a "metabimin" or a conditionally essential metabolite. In humans, about 25% of carnitine is synthesized in the liver, kidney, and brain from lysine and methionine. Most of the carnitine in the body comes from dietary sources such as red meat and dairy products. Inborn errors of carnitine metabolism such as Reye‚Äôs syndrome can lead to brain deterioration gradually worsening muscle weakness, Duchenne-like muscular dystrophy, and extreme muscle weakness with fat accumulation in muscles. Carnitine is an essential nutrient for pre-term babies and individuals who are unable to eat a normal diet (e.g. non-ketotic hypoglycemics, kidney dialysis patients) (PMID: 115309 ). In conditions such as kwashiorkor, cirrhosis, and heart muscle disease (cardiomyopathy) as well as in inborn errors of metabolism such as type IV hyperlipidemia and propionic aciduria, carnitine is essential to life and carnitine supplements are critically important. Carnitine therapy may also be useful in a wide variety of clinical conditions. Carnitine supplementation has improved some patients who have angina secondary to coronary artery disease. Carnitine supplements may also be useful in many forms of metabolic liver diseases and heart muscle disease. Hearts undergoing severe arrhythmia quickly deplete their stores of carnitine. Athletes, particularly in Europe, have used carnitine supplements for improved endurance. Carnitine may improve muscle building by improving fat utilization and may even be useful in treating obesity. Carnitine may be of value in treating pregnant women, hypothyroid individuals, and male infertility due to the low motility of sperm. Carnitine deficiency is noted in abnormal liver function, renal dialysis patients, and severe to moderate muscular weakness with associated anorexia. Carnitine is a biomarker for the consumption of meat. In fact, carnitine was first extracted from meat extracts in 1905, leading to its name from Latin, "caro/carnis" or flesh.

Structure

MOL 3D MOL SDF 3D SDF PDB 3D PDB SMILES InChI

COMPND    HMDB0000062
HETATM    1  C1  UNL     1      -2.045  -1.115   0.460  1.00  0.00           C  
HETATM    2  N1  UNL     1      -1.493   0.086  -0.133  1.00  0.00           N1+
HETATM    3  C2  UNL     1      -1.537   1.160   0.811  1.00  0.00           C  
HETATM    4  C3  UNL     1      -2.389   0.459  -1.238  1.00  0.00           C  
HETATM    5  C4  UNL     1      -0.220  -0.193  -0.694  1.00  0.00           C  
HETATM    6  C5  UNL     1       0.932  -0.184   0.255  1.00  0.00           C  
HETATM    7  O1  UNL     1       1.139   1.013   0.899  1.00  0.00           O  
HETATM    8  C6  UNL     1       2.196  -0.448  -0.574  1.00  0.00           C  
HETATM    9  C7  UNL     1       3.368  -0.446   0.313  1.00  0.00           C  
HETATM   10  O2  UNL     1       3.622  -1.470   1.009  1.00  0.00           O  
HETATM   11  O3  UNL     1       4.199   0.647   0.408  1.00  0.00           O  
HETATM   12  H1  UNL     1      -2.692  -0.848   1.332  1.00  0.00           H  
HETATM   13  H2  UNL     1      -2.668  -1.648  -0.287  1.00  0.00           H  
HETATM   14  H3  UNL     1      -1.206  -1.747   0.798  1.00  0.00           H  
HETATM   15  H4  UNL     1      -1.005   2.059   0.450  1.00  0.00           H  
HETATM   16  H5  UNL     1      -1.259   0.867   1.840  1.00  0.00           H  
HETATM   17  H6  UNL     1      -2.620   1.480   0.884  1.00  0.00           H  
HETATM   18  H7  UNL     1      -3.121   1.216  -0.898  1.00  0.00           H  
HETATM   19  H8  UNL     1      -1.797   0.926  -2.069  1.00  0.00           H  
HETATM   20  H9  UNL     1      -2.958  -0.412  -1.612  1.00  0.00           H  
HETATM   21  H10 UNL     1      -0.256  -1.197  -1.170  1.00  0.00           H  
HETATM   22  H11 UNL     1      -0.021   0.526  -1.525  1.00  0.00           H  
HETATM   23  H12 UNL     1       0.858  -1.017   0.968  1.00  0.00           H  
HETATM   24  H13 UNL     1       1.398   0.820   1.834  1.00  0.00           H  
HETATM   25  H14 UNL     1       2.104  -1.432  -1.077  1.00  0.00           H  
HETATM   26  H15 UNL     1       2.282   0.370  -1.328  1.00  0.00           H  
HETATM   27  H16 UNL     1       5.190   0.528   0.342  1.00  0.00           H  
CONECT    1    2   12   13   14
CONECT    2    3    4    5
CONECT    3   15   16   17
CONECT    4   18   19   20
CONECT    5    6   21   22
CONECT    6    7    8   23
CONECT    7   24
CONECT    8    9   25   26
CONECT    9   10   10   11
CONECT   11   27
END

View in JSmol View Stereo Labels

Synonyms

Value	Source
(-)-Carnitine	ChEBI
(-)-L-Carnitine	ChEBI
3-Carboxy-2-hydroxy-N,N,N-trimethyl-1-propanaminium hydroxide, inner salt	ChEBI
Carnicor	ChEBI
Carnitene	ChEBI
Carnitine	ChEBI
Carnitor	ChEBI
Karnitin	ChEBI
Levocarnitine	ChEBI
Vitamin BT	ChEBI
L-gamma-Trimethyl-beta-hydroxybutyrobetaine	Kegg
(R)-Carnitine	Kegg
L-g-Trimethyl-b-hydroxybutyrobetaine	Generator
L-Γ-trimethyl-β-hydroxybutyrobetaine	Generator
(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate	HMDB
(R)-(3-Carboxy-2-hydroxypropyl)trimethylammonium hydroxide	HMDB
(S)-Carnitine	HMDB
1-Carnitine	HMDB
3-Carboxy-2-hydroxy-N,N,N-trimethyl-1-propanaminium	HMDB
3-Hydroxy-4-trimethylammoniobutanoate	HMDB
3-Hydroxy-4-trimethylammoniobutanoic acid	HMDB
Bicarnesine	HMDB
Carniking	HMDB
Carniking 50	HMDB
Carnilean	HMDB
Carnipass	HMDB
Carnipass 20	HMDB
D-Carnitine	HMDB
delta-Carnitine	HMDB
DL-Carnitine	HMDB
gamma-Trimethyl-ammonium-beta-hydroxybutirate	HMDB
gamma-Trimethyl-beta-hydroxybutyrobetaine	HMDB
gamma-Trimethyl-hydroxybutyrobetaine	HMDB
L-(-)-Carnitine	HMDB
Levocarnitina	HMDB
Levocarnitinum	HMDB
R-(-)-3-Hydroxy-4-trimethylaminobutyrate	HMDB
L Carnitine	HMDB
L-Carnitine	ChEBI

Chemical Formula

C₇H₁₅NO₃

Average Molecular Weight

161.1989

Monoisotopic Molecular Weight

161.105193351

IUPAC Name

(3R)-3-hydroxy-4-(trimethylazaniumyl)butanoate

Traditional Name

L-carnitine

CAS Registry Number

541-15-1

SMILES

C[N+](C)(C)C[C@H](O)CC([O-])=O

InChI Identifier

InChI=1S/C7H15NO3/c1-8(2,3)5-6(9)4-7(10)11/h6,9H,4-5H2,1-3H3/t6-/m1/s1

InChI Key

PHIQHXFUZVPYII-ZCFIWIBFSA-N

Chemical Taxonomy

Description

Belongs to the class of organic compounds known as carnitines. These are organic compounds containing the quaternary ammonium compound carnitine.

Kingdom

Organic compounds

Super Class

Organic nitrogen compounds

Class

Organonitrogen compounds

Sub Class

Quaternary ammonium salts

Direct Parent

Carnitines

Alternative Parents

Substituents

Carnitine
Beta-hydroxy acid
Short-chain hydroxy acid
Fatty acid
Hydroxy acid
Tetraalkylammonium salt
1,2-aminoalcohol
Carboxylic acid salt
Secondary alcohol
Carboxylic acid derivative
Carboxylic acid
Monocarboxylic acid or derivatives
Organic oxygen compound
Organooxygen compound
Organic zwitterion
Organic salt
Hydrocarbon derivative
Organic oxide
Carbonyl group
Organopnictogen compound
Amine
Alcohol
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

carnitine (CHEBI:16347 )

Ontology

Not Available

Physical Properties

State

Solid

Experimental Molecular Properties

Property	Value	Reference
Melting Point	197 °C	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	Not Available	Not Available
LogP	Not Available	Not Available

Experimental Chromatographic Properties

Experimental Collision Cross Sections

Adduct Type	Data Source	CCS Value (Å²)	Reference
[M+H]+	Astarita_pos	130.0	30932474
[M+H]+	MetCCS_test_pos	133.091	30932474

Predicted Molecular Properties

Property	Value	Source
Water Solubility	5.33 g/L	ALOGPS
logP	-2.9	ALOGPS
logP	-4.9	ChemAxon
logS	-1.6	ALOGPS
pKa (Strongest Acidic)	4.2	ChemAxon
pKa (Strongest Basic)	-3.6	ChemAxon
Physiological Charge	0	ChemAxon
Hydrogen Acceptor Count	3	ChemAxon
Hydrogen Donor Count	1	ChemAxon
Polar Surface Area	60.36 Å²	ChemAxon
Rotatable Bond Count	4	ChemAxon
Refractivity	63.49 m³·mol⁻¹	ChemAxon
Polarizability	16.93 Å³	ChemAxon
Number of Rings	0	ChemAxon
Bioavailability	Yes	ChemAxon
Rule of Five	Yes	ChemAxon
Ghose Filter	No	ChemAxon
Veber's Rule	No	ChemAxon
MDDR-like Rule	No	ChemAxon

Predicted Chromatographic Properties

Predicted Collision Cross Sections

Predictor	Adduct Type	CCS Value (Å²)	Reference
DeepCCS	[M+H]+	132.147	30932474
DeepCCS	[M-H]-	129.303	30932474
DeepCCS	[M-2H]-	166.128	30932474
DeepCCS	[M+Na]+	141.608	30932474
AllCCS	[M+H]+	135.1	32859911
AllCCS	[M+H-H2O]+	131.4	32859911
AllCCS	[M+NH4]+	138.5	32859911
AllCCS	[M+Na]+	139.5	32859911
AllCCS	[M-H]-	145.0	32859911
AllCCS	[M+Na-2H]-	146.8	32859911
AllCCS	[M+HCOO]-	148.8	32859911

Predicted Kovats Retention Indices

Underivatized

Metabolite	SMILES	Kovats RI Value	Column Type	Reference
L-Carnitine	C[N+](C)(C)C[C@H](O)CC(O)=O	2369.4	Standard polar	33892256
L-Carnitine	C[N+](C)(C)C[C@H](O)CC(O)=O	1123.9	Standard non polar	33892256
L-Carnitine	C[N+](C)(C)C[C@H](O)CC(O)=O	1323.5	Semi standard non polar	33892256

Derivatized

Derivative Name / Structure	SMILES	Kovats RI Value	Column Type	Reference
L-Carnitine,1TMS,isomer #1	C[N+](C)(C)C[C@@H](CC(=O)O)O[Si](C)(C)C	1343.9	Semi standard non polar	33892256
L-Carnitine,1TMS,isomer #2	C[N+](C)(C)C[C@H](O)CC(=O)O[Si](C)(C)C	1329.7	Semi standard non polar	33892256
L-Carnitine,2TMS,isomer #1	C[N+](C)(C)C[C@@H](CC(=O)O[Si](C)(C)C)O[Si](C)(C)C	1400.1	Semi standard non polar	33892256
L-Carnitine,1TBDMS,isomer #1	CC(C)(C)[Si](C)(C)O[C@H](CC(=O)O)C[N+](C)(C)C	1552.4	Semi standard non polar	33892256
L-Carnitine,1TBDMS,isomer #2	CC(C)(C)[Si](C)(C)OC(=O)C[C@@H](O)C[N+](C)(C)C	1551.2	Semi standard non polar	33892256
L-Carnitine,2TBDMS,isomer #1	CC(C)(C)[Si](C)(C)OC(=O)C[C@H](C[N+](C)(C)C)O[Si](C)(C)C(C)(C)C	1848.3	Semi standard non polar	33892256

Spectra

GC-MS Spectra

Spectrum Type	Description	Splash Key	Deposition Date	Source	View
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (Non-derivatized) - 70eV, Positive	splash10-00di-9100000000-1b25dacb04c3ed5be8d0	2016-09-22	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (1 TMS) - 70eV, Positive	splash10-00di-9100000000-c15eaa190d1e28a4839a	2017-10-06	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (Non-derivatized) - 70eV, Positive	Not Available	2021-10-12	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TMS_1_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TMS_1_2) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TMS_2_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TBDMS_1_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TBDMS_1_2) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - L-Carnitine GC-MS (TBDMS_2_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum

MS/MS Spectra

Spectrum Type	Description	Splash Key	Deposition Date	Source	View
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QQ , positive-QTOF	splash10-03di-0900000000-9b579c570aab7c7d3a21	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QQ , positive-QTOF	splash10-0ik9-0900000000-e37d3def2de1af5bd2f5	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QQ , positive-QTOF	splash10-0ue9-8900000000-cf37f0a721cd52d86e8e	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QQ , positive-QTOF	splash10-0r0c-9200000000-a11a4872036f3c33d25a	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QQ , positive-QTOF	splash10-0a4l-9000000000-2402e260a330ff1772a1	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-IT , positive-QTOF	splash10-0w29-6900000000-d0136248acdd706e650b	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QTOF , positive-QTOF	splash10-0ik9-2900000000-61732bb10307f2b183ca	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QTOF , positive-QTOF	splash10-0zg0-9400000000-15c3db3324f1d46d3c7c	2017-09-14	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - L-Carnitine LC-ESI-QTOF , positive-QTOF	splash10-0ik9-2900000000-ee79f10dce9fc09246ec	2017-09-14	HMDB team, MONA	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 10V, Positive-QTOF	splash10-01ox-0900000000-3bffd5143cf8b072299e	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 20V, Positive-QTOF	splash10-00kf-0900000000-e68f553bcb15d3ef5b47	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 40V, Positive-QTOF	splash10-00di-9200000000-c5b43723951af6da48cf	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 10V, Negative-QTOF	splash10-03di-1900000000-dd1b1a023937cdcb11af	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 20V, Negative-QTOF	splash10-114i-3900000000-9f24d3bc535736149e2a	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 40V, Negative-QTOF	splash10-0a4l-9000000000-632ef17d9dde38586990	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 10V, Positive-QTOF	splash10-03di-3900000000-97af6636a917c0edea61	2021-09-24	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 20V, Positive-QTOF	splash10-01pc-9300000000-543e21cb6b9785149e31	2021-09-24	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - L-Carnitine 40V, Positive-QTOF	splash10-08fr-9000000000-9128d6fe96d9c7276695	2021-09-24	Wishart Lab	View Spectrum

NMR Spectra

Spectrum Type	Description	Deposition Date	Source	View

IR Spectra

Spectrum Type	Description	Deposition Date	Source	View
Predicted IR Spectrum	IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M-H]-)	2023-02-03	FELIX lab	View Spectrum
Predicted IR Spectrum	IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+H]+)	2023-02-03	FELIX lab	View Spectrum
Predicted IR Spectrum	IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+Na]+)	2023-02-03	FELIX lab	View Spectrum

Biological Properties

Cellular Locations

Cytoplasm
Extracellular
Mitochondria
Endoplasmic reticulum
Peroxisome

Biospecimen Locations

Blood
Breast Milk
Cerebrospinal Fluid (CSF)
Feces
Saliva
Urine

Tissue Locations

Adipose Tissue
Bladder
Brain
Erythrocyte
Fibroblasts
Heart
Intestine
Kidney
Liver
Lung
Neuron
Placenta
Platelet
Prostate
Semen
Skeletal Muscle
Testis

Pathways

Name	SMPDB/PathBank	KEGG
Biosynthesis of unsaturated fatty acids	Not Available
Oxidation of Branched Chain Fatty Acids		Not Available
Carnitine Synthesis		Not Available
Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids		Not Available
Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids		Not Available

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	29.74 +/- 7.55 uM	Adult (>18 years old)	Both	Normal	21359215	details
Blood	Detected and Quantified	25-88 uM	Not Specified	Not Specified	Normal	19893767	details
Blood	Detected and Quantified	28.500-109 uM	Infant (0-1 year old)	Not Specified	Normal	11489939	details
Blood	Detected and Quantified	25.4-54.1 uM	Adult (>18 years old)	Female	Normal	15519880	details
Blood	Detected and Quantified	40-60 uM	Infant (0-1 year old)	Not Specified	Normal	3185635	details
Blood	Detected and Quantified	26-66 uM	Infant (0-1 year old)	Not Specified	Normal	2017228	details
Blood	Detected and Quantified	28-47 uM	Infant (0-1 year old)	Not Specified	Normal	3185635	details
Blood	Detected and Quantified	26-66 uM	Children (1-13 years old)	Not Specified	Normal	2017228	details
Blood	Detected and Quantified	37-58 uM	Infant (0-1 year old)	Not Specified	Normal	3185635	details
Blood	Detected and Quantified	50 +/- 30 uM	Children (1-13 years old)	Not Specified	Normal	7131143	details
Blood	Detected and Quantified	>25 uM	Infant (0-1 year old)	Not Specified	Normal	12838198	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	32966057	details
Blood	Detected and Quantified	26-70 uM	Children (1-13 years old)	Not Specified	Normal	17301081	details
Blood	Detected and Quantified	33.6 +/- 6.2 uM	Children (1-13 years old)	Both	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	38.2 +/- 5.4 uM	Adult (>18 years old)	Female	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	15.5 (13.2-17.7) uM	Newborn (0-30 days old)	Not Available	Normal	25754623	details
Blood	Detected and Quantified	16.28 +/- 8.41 uM	Children (1-13 years old)	Both	Normal	24521011	details
Blood	Detected and Quantified	14.60 +/- 5.43 uM	Children (1-13 years old)	Both	Normal	24521011	details
Blood	Detected and Quantified	43.0 (26.0-79.0) uM	Adult (>18 years old)	Both	Normal	1643708	details
Blood	Detected and Quantified	41.2 (35.5-47.5) uM	Infant (0-1 year old)	Not Available	Normal	25754623	details
Blood	Detected and Quantified	43.57(9.97) uM	Adult (>18 years old)	Both	Normal	26010610	details
Blood	Detected and Quantified	39.33(13.25) uM	Adult (>18 years old)	Both	Normal	26010610	details
Blood	Detected and Quantified	40.430 +/- 3.650 uM	Children (1-13 years old)	Not Specified	Normal	25557019	details
Blood	Detected and Quantified	19.0-65.0 uM	Adult (>18 years old)	Both	Normal	The Metabolo...	details
Blood	Detected and Quantified	35-75 uM	Not Specified	Not Specified	Normal	9187477	details
Blood	Detected and Quantified	35.3 +/- 7.0 uM	Adult (>18 years old)	Both	Normal	28278231	details
Blood	Detected and Quantified	45.7 +/- 11.6 uM	Adult (>18 years old)	Both	Normal	21359215	details
Breast Milk	Detected and Quantified	26.2 +/- 10.1 uM	Adult (>18 years old)	Female	Normal	24027187	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	1.900 +/- 0.474 uM	Adult (>18 years old)	Both	Normal	22546835	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	4.0 (2.0 - 9.0) uM	Adult (>18 years old)	Both	Normal	1643708	details
Feces	Detected and Quantified	19.87 +/- 11.39 nmol/g wet feces	Adult (>18 years old)	Both	Normal	27624970	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	27543620	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	25037050	details
Feces	Detected and Quantified	8.13 +/- 3.11 nmol/g wet feces	Adult (>18 years old)	Both	Normal	27624970	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	29808030	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	20300169	details
Saliva	Detected and Quantified	5.24 +/- 1.035 uM	Adult (>18 years old)	Both	Normal	Zerihun T. Dame, ...	details
Saliva	Detected and Quantified	0.924 +/- 0.960 uM	Adult (>18 years old)	Female	Normal	Sugimoto et al. (...	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Normal	22727327	details
Saliva	Detected and Quantified	0.656 +/- 0.734 uM	Adult (>18 years old)	Female	Normal	Sugimoto et al. (...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22932811	details
Urine	Detected and Quantified	6926.20 +/- 754.66 umol/mmol creatinine	Adolescent (13-18 years old)	Both	Normal	26910390	details
Urine	Detected and Quantified	10.733 +/- 1.733 umol/mmol creatinine	Adult (>18 years old)	Not Specified	Normal	7131143	details
Urine	Detected and Quantified	3.800-5.133 umol/mmol creatinine	Children (1-13 years old)	Not Specified	Normal	7131143	details
Urine	Detected and Quantified	0.317-40.928 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	15519880	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21389975	details
Urine	Detected and Quantified	4.5 (0.62-15.2) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	5.0 (0.7-16.4) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	3.17 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	Shaykhutdinov RA,...	details
Urine	Detected and Quantified	5.7 +/- 4.8 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	Geigy Scientific ...	details
Urine	Detected and Quantified	18.159 +/- 16.442 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Analysis of 30 no...	details
Urine	Detected and Quantified	2.87 (1.76-6.00) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	Analysis of 40 NI...	details
Urine	Detected and Quantified	0.79-5.66 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	32340350	details
Urine	Detected and Quantified	1.63(0.83-4.31) umol/mmol creatinine	Newborn (0-30 days old)	Female	Normal	32340350	details
Urine	Detected and Quantified	1.80(0.78-5.85) umol/mmol creatinine	Newborn (0-30 days old)	Male	Normal	32340350	details
Urine	Detected and Quantified	<100 umol/mmol creatinine	Not Specified	Not Specified	Normal	9187477	details
Urine	Detected and Quantified	23.5 +/- 4.0 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected and Quantified	18.0 +/- 1.2 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	17022649	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	17022649	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	22000-50000 uM	Not Specified	Not Specified	3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency	9727719	details
Blood	Detected and Quantified	41.7 +/- 23.9 uM	Adult (>18 years old)	Both	Heart Transplant	21359215	details
Blood	Detected and Quantified	17 uM	Adult (>18 years old)	Male	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	19893767	details
Blood	Detected and Quantified	47-68 uM	Infant (0-1 year old)	Female	3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)	11489939	details
Blood	Detected and Quantified	20.6-33.8 uM	Adult (>18 years old)	Female	Myopathic carnitine deficiency	15519880	details
Blood	Detected and Quantified	0-2.2 uM	Infant (0-1 year old)	Female	Long-chain Fatty Acids, Defect in Transport of	3185635	details
Blood	Detected and Quantified	12 uM	Newborn (0-30 days old)	Male	Carnitine palmitoyltransferase deficiency I	11286380	details
Blood	Detected and Quantified	0 uM	Infant (0-1 year old)	Female	Carnitine transporter defect; primary systemic carnitine deficiency	3185635	details
Blood	Detected and Quantified	15 uM	Newborn (0-30 days old)	Male	Carnitine palmitoyltransferase deficiency I	11286380	details
Blood	Detected and Quantified	37-48 uM	Infant (0-1 year old)	Not Specified	Oculocerebrorenal Syndrome of Lowe	2017228	details
Blood	Detected and Quantified	26.04 +/- 10.5 uM	Adult (>18 years old)	Female	Pregnancy with fetuses with trisomy 18	23535240	details
Blood	Detected and Quantified	23-72 uM	Children (1-13 years old)	Both	Methylmalonic aciduria mitochondrial encephelopathy Leigh-like	17301081	details
Blood	Detected and Quantified	15-34 uM	Children (1-13 years old)	Not Specified	Oculocerebrorenal Syndrome of Lowe	2017228	details
Blood	Detected and Quantified	24.3 +/- 11.7 uM	Adult (>18 years old)	Female	Pregnancy	23535240	details
Blood	Detected and Quantified	9-33 uM	Adolescent (13-18 years old)	Not Specified	Oculocerebrorenal Syndrome of Lowe	2017228	details
Blood	Detected and Quantified	19-31 uM	Adult (>18 years old)	Not Specified	Oculocerebrorenal Syndrome of Lowe	2017228	details
Blood	Detected and Quantified	30.2 (6.3) uM	Adult (>18 years old)	Female	Early preeclampsia	22494326	details
Blood	Detected and Quantified	10-21 uM	Infant (0-1 year old)	Not Available	Mitochondrial trifunctional protein deficiency	12838198	details
Blood	Detected and Quantified	31.8 (14.1) uM	Adult (>18 years old)	Female	Pregnancy	22494326	details
Blood	Detected and Quantified	0.7 uM	Infant (0-1 year old)	Female	Carnitine transporter defect; primary systemic carnitine deficiency	3185635	details
Blood	Detected and Quantified	4.2 uM	Children (1-13 years old)	Male	Carnitine transporter defect; primary systemic carnitine deficiency	7131143	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25105552	details
Blood	Detected and Quantified	43-51 uM	Infant (0-1 year old)	Male	3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)	23430856	details
Blood	Detected and Quantified	16.798 (14.323) uM	Adult (>18 years old)	Female	Pregnancy with fetus having congenital heart defect	24704061	details
Blood	Detected and Quantified	15.08 +/- 5.71 uM	Children (1-13 years old)	Both	Acetaminophen overdose	24521011	details
Blood	Detected and Quantified	21.08 (4.88) uM	Adult (>18 years old)	Female	Pregnancy with fetus having congenital heart defect	24704061	details
Blood	Detected and Quantified	19.98 (4.82) uM	Adult (>18 years old)	Female	Pregnancy	24704061	details
Blood	Detected and Quantified	46.8 (24.8) uM	Adult (>18 years old)	Female	Late-onset preeclampsia	23159745	details
Blood	Detected and Quantified	18-22 uM	Infant (0-1 year old)	Male	2,4-dienoyl-CoA reductase deficiency	24847004	details
Blood	Detected and Quantified	27.8 (20.0) uM	Adult (>18 years old)	Female	Pregnancy	23159745	details
Blood	Detected and Quantified	50.65(14.14) uM	Adult (>18 years old)	Both	Heart failure with preserved ejection fraction	26010610	details
Blood	Detected and Quantified	47.22(15.19) uM	Adult (>18 years old)	Both	Heart failure with preserved ejection fraction	26010610	details
Blood	Detected and Quantified	54.38(13.17) uM	Adult (>18 years old)	Both	Heart failure with reduced ejection fraction	26010610	details
Blood	Detected and Quantified	50.38(8.11) uM	Adult (>18 years old)	Both	Heart failure with reduced ejection fraction	26010610	details
Blood	Detected and Quantified	20.540 +/- 1.850 uM	Children (1-13 years old)	Not Specified	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	25557019	details
Blood	Detected and Quantified	23-50 uM	Children (1-13 years old)	Both	L-2-hydroxyglutaric aciduria	9187477	details
Blood	Detected and Quantified	34.0 +/- 8.8 uM	Children (1-13 years old)	Both	Obesity	Metabolomics reve...	details
Blood	Detected and Quantified	36.2 +/- 8.1 uM	Children (1-13 years old)	Both	Obesity	Metabolomics reve...	details
Blood	Detected and Quantified	25.5 (9.7) uM	Adult (>18 years old)	Female	Down syndrome pregnancy	23313728	details
Blood	Detected and Quantified	19.5 (8.3) uM	Adult (>18 years old)	Female	Pregnancy	23313728	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25037050	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	27015276	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal Cancer	27275383	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Oral cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Breast cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Periodontal diseases	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Pancreatic cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Attachment loss	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Missing teeth	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Periodontal Probing Depth	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Tooth Decay	31026179	details
Urine	Detected and Quantified	13.3 (11.6-15.1) umol/mmol creatinine	Adult (>18 years old)	Both	Diabetes	6810706	details
Urine	Detected and Quantified	41.3 (38.3-44.2) umol/mmol creatinine	Adult (>18 years old)	Both	Diabetes	6810706	details
Urine	Detected and Quantified	11183.81 +/- 6864.25 umol/mmol creatinine	Adolescent (13-18 years old)	Both	Obese	26910390	details
Urine	Detected and Quantified	1.517 umol/mmol creatinine	Children (1-13 years old)	Not Available	Carnitine transporter defect; primary systemic carnitine deficiency	7131143	details
Urine	Detected and Quantified	9.395-121.200 umol/mmol creatinine	Adult (>18 years old)	Female	Myopathic carnitine deficiency	15519880	details
Urine	Detected and Quantified	7.21 umol/mmol creatinine	Adult (>18 years old)	Not Specified	Propionic acidemia	28853722	details
Urine	Detected and Quantified	7.0 (0.0-30.0) umol/mmol creatinine	Not Specified	Both	Lung cancer	18953024	details
Urine	Detected and Quantified	17.565 +/- 24.221 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Analysis of 30 no...	details
Urine	Detected and Quantified	31-Jul umol/mmol creatinine	Children (1-13 years old)	Both	L-2-hydroxyglutaric aciduria	9187477	details

Associated Disorders and Diseases

Disease References

Colorectal cancer
Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14. [PubMed:25105552 ] Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ] Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ] Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Early preeclampsia
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
Pregnancy
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ] Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ] Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8. [PubMed:23313728 ] Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25. [PubMed:23535240 ] Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1. [PubMed:24704061 ]
Late-onset preeclampsia
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
L-2-Hydroxyglutaric aciduria
Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimaraes A, Pires MM, Cardoso ML, Vilarinho L: L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev. 1997 Jun;19(4):268-73. [PubMed:9187477 ]
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
Morris AA, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA: Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatr Res. 1998 Sep;44(3):392-6. doi: 10.1203/00006450-199809000-00021. [PubMed:9727719 ]
3-Hydroxyacyl-CoA dehydrogenase deficiency
Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001 Aug;108(3):457-65. [PubMed:11489939 ] Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M: 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6. [PubMed:23430856 ]
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Leung AA, Chan AK, Ezekowitz JA, Leung AK: A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency. Case Rep Med. 2009;2009:183125. doi: 10.1155/2009/183125. Epub 2009 Nov 4. [PubMed:19893767 ] Dos Santos Mello M, Ribas GS, Wayhs CA, Hammerschmidt T, Guerreiro GB, Favenzani JL, Sitta A, de Moura Coelho D, Wajner M, Vargas CR: Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria. Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4. [PubMed:25557019 ]
2,4-dienoyl-CoA reductase deficiency
Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ: Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8. [PubMed:24847004 ]
Myopathic carnitine deficiency
Vielhaber S, Feistner H, Weis J, Kreuder J, Sailer M, Schroder JM, Kunz WS: Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course. J Clin Neurosci. 2004 Nov;11(8):919-24. doi: 10.1016/j.jocn.2003.11.019. [PubMed:15519880 ]
Carnitine palmitoyltransferase I deficiency
Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS: Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis. 2001 Feb;24(1):35-42. [PubMed:11286380 ]
Carnitine transporter defect; primary systemic carnitine deficiency
Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006. [PubMed:3185635 ] Waber LJ, Valle D, Neill C, DiMauro S, Shug A: Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr. 1982 Nov;101(5):700-5. [PubMed:7131143 ]
Methylmalonic aciduria mitochondrial encephelopathy Leigh-like
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA: SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14. [PubMed:17301081 ]
Mitochondrial trifunctional protein deficiency
den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA: Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. [PubMed:12838198 ]
Long-chain Fatty Acids, Defect in Transport of
Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006. [PubMed:3185635 ]
Oculocerebrorenal syndrome
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA: Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med. 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. [PubMed:2017228 ]
Perillyl alcohol administration for cancer treatment
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Periodontal disease
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Pancreatic cancer
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Attachment loss
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Missing teeth
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Periodontal Probing Depth
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Tooth Decay
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Diabetes mellitus type 2
Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed:6810706 ]
Lung Cancer
Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 Jan;37(Database issue):D603-10. doi: 10.1093/nar/gkn810. Epub 2008 Oct 25. [PubMed:18953024 ]
Eosinophilic esophagitis
Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work). NA.
Propionic acidemia
Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
Obesity
Cho K, Moon JS, Kang JH, Jang HB, Lee HJ, Park SI, Yu KS, Cho JY: Combined untargeted and targeted metabolomic profiling reveals urinary biomarkers for discriminating obese from normal-weight adolescents. Pediatr Obes. 2017 Apr;12(2):93-101. doi: 10.1111/ijpo.12114. Epub 2016 Feb 22. [PubMed:26910390 ] Simone Wahl, Christina Holzapfel, Zhonghao Yu, Michaela Breier, Ivan Kondofersky, Christiane Fuchs, Paula Singmann, Cornelia Prehn, Jerzy Adamski, Harald Grallert, Thomas Illig, Rui Wang-Sattler, Thomas Reinehr (2013). Metabolomics reveals determinants of weight loss during lifestyle intervention in obese children. Metabolomics.

Associated OMIM IDs

114500 (Colorectal cancer)
236792 (L-2-Hydroxyglutaric aciduria)
605911 (3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency)
231530 (3-Hydroxyacyl-CoA dehydrogenase deficiency)
246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
616034 (2,4-dienoyl-CoA reductase deficiency)
212160 (Myopathic carnitine deficiency)
255120 (Carnitine palmitoyltransferase I deficiency)
212140 (Carnitine transporter defect; primary systemic carnitine deficiency)
609015 (Mitochondrial trifunctional protein deficiency)
603376 (Long-chain Fatty Acids, Defect in Transport of)
309000 (Oculocerebrorenal syndrome)
170650 (Periodontal disease)
260350 (Pancreatic cancer)
125853 (Diabetes mellitus type 2)
211980 (Lung Cancer)
610247 (Eosinophilic esophagitis)
606054 (Propionic acidemia)
601665 (Obesity)

External Links

DrugBank ID

DB00583

Phenol Explorer Compound ID

Not Available

FooDB ID

FDB000571

KNApSAcK ID

Not Available

Chemspider ID

KEGG Compound ID

BioCyc ID

BiGG ID

Wikipedia Link

METLIN ID

PubChem Compound

10917

PDB ID

Not Available

ChEBI ID

16347

Food Biomarker Ontology

Not Available

VMH ID

CRN

MarkerDB ID

MDB00000031

Good Scents ID

Not Available

References

Synthesis Reference

Bols, Mikael; Lundt, Inge; Pedersen, Christian. Simple synthesis of (R)-carnitine from D-galactono-1,4-lactone. Tetrahedron (1992), 48(2), 319-24.

Material Safety Data Sheet (MSDS)

Download (PDF)

General References

Tamai I, China K, Sai Y, Kobayashi D, Nezu J, Kawahara E, Tsuji A: Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney. Biochim Biophys Acta. 2001 Jun 6;1512(2):273-84. [PubMed:11406104 ]
Waldner R, Laschan C, Lohninger A, Gessner M, Tuchler H, Huemer M, Spiegel W, Karlic H: Effects of doxorubicin-containing chemotherapy and a combination with L-carnitine on oxidative metabolism in patients with non-Hodgkin lymphoma. J Cancer Res Clin Oncol. 2006 Feb;132(2):121-8. Epub 2005 Nov 8. [PubMed:16283381 ]
Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
Wachter S, Vogt M, Kreis R, Boesch C, Bigler P, Hoppeler H, Krahenbuhl S: Long-term administration of L-carnitine to humans: effect on skeletal muscle carnitine content and physical performance. Clin Chim Acta. 2002 Apr;318(1-2):51-61. [PubMed:11880112 ]
Evans AM, Fornasini G: Pharmacokinetics of L-carnitine. Clin Pharmacokinet. 2003;42(11):941-67. [PubMed:12908852 ]
Pastoris O, Dossena M, Foppa P, Catapano M, Arbustini E, Bellini O, Dal Bello B, Minzioni G, Ceriana P, Barzaghi N: Effect of L-carnitine on myocardial metabolism: results of a balanced, placebo-controlled, double-blind study in patients undergoing open heart surgery. Pharmacol Res. 1998 Feb;37(2):115-22. [PubMed:9572066 ]
Stephens FB, Constantin-Teodosiu D, Laithwaite D, Simpson EJ, Greenhaff PL: Insulin stimulates L-carnitine accumulation in human skeletal muscle. FASEB J. 2006 Feb;20(2):377-9. Epub 2005 Dec 20. [PubMed:16368715 ]
Malaguarnera M, Pistone G, Astuto M, Dell'Arte S, Finocchiaro G, Lo Giudice E, Pennisi G: L-Carnitine in the treatment of mild or moderate hepatic encephalopathy. Dig Dis. 2003;21(3):271-5. [PubMed:14571103 ]
Oey NA, van Vlies N, Wijburg FA, Wanders RJ, Attie-Bitach T, Vaz FM: L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism. Placenta. 2006 Aug;27(8):841-6. Epub 2005 Nov 18. [PubMed:16300828 ]
Feinfeld DA, Kurian P, Cheng JT, Dilimetin G, Arriola MR, Ward L, Manis T, Carvounis CP: Effect of oral L-carnitine on serum myoglobin in hemodialysis patients. Ren Fail. 1996 Jan;18(1):91-6. [PubMed:8820505 ]
Matalliotakis I, Koumantaki Y, Evageliou A, Matalliotakis G, Goumenou A, Koumantakis E: L-carnitine levels in the seminal plasma of fertile and infertile men: correlation with sperm quality. Int J Fertil Womens Med. 2000 May-Jun;45(3):236-40. [PubMed:10929687 ]
Vescovo G, Ravara B, Gobbo V, Dalla Libera L: Inflammation and perturbation of the l-carnitine system in heart failure. Eur J Heart Fail. 2005 Oct;7(6):997-1002. [PubMed:16227137 ]
Lerch R: [The effect of L-carnitine on ischemic heart disease: experimental results]. Praxis (Bern 1994). 1998 Jan 21;87(4):97-100. [PubMed:9522638 ]
Khademi A, Alleyassin A, Safdarian L, Hamed EA, Rabiee E, Haghaninezhad H: The effects of L-carnitine on sperm parameters in smoker and non-smoker patients with idiopathic sperm abnormalities. J Assist Reprod Genet. 2005 Dec;22(11-12):395-9. [PubMed:16331536 ]
Stradomska TJ, Tylki-Szymanska A, Bentkowski Z: Very long-chain fatty acids in Rett syndrome. Eur J Pediatr. 1999 Mar;158(3):226-9. [PubMed:10094444 ]
Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed:6810706 ]
Lenzi A, Sgro P, Salacone P, Paoli D, Gilio B, Lombardo F, Santulli M, Agarwal A, Gandini L: A placebo-controlled double-blind randomized trial of the use of combined l-carnitine and l-acetyl-carnitine treatment in men with asthenozoospermia. Fertil Steril. 2004 Jun;81(6):1578-84. [PubMed:15193480 ]
Sinclair C, Gilchrist JM, Hennessey JV, Kandula M: Muscle carnitine in hypo- and hyperthyroidism. Muscle Nerve. 2005 Sep;32(3):357-9. [PubMed:15803480 ]
Ahmad S: L-carnitine in dialysis patients. Semin Dial. 2001 May-Jun;14(3):209-17. [PubMed:11422928 ]
Shihabi ZK, Oles KS, McCormick CP, Penry JK: Serum and tissue carnitine assay based on dialysis. Clin Chem. 1992 Aug;38(8 Pt 1):1414-7. [PubMed:1643708 ]
Steiber A, Kerner J, Hoppel CL: Carnitine: a nutritional, biosynthetic, and functional perspective. Mol Aspects Med. 2004 Oct-Dec;25(5-6):455-73. [PubMed:15363636 ]
Olpin SE: Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults. Clin Lab. 2005;51(5-6):289-306. [PubMed:15991803 ]
Borum PR, York CM, Broquist HP: Carnitine content of liquid formulas and special diets. Am J Clin Nutr. 1979 Nov;32(11):2272-6. doi: 10.1093/ajcn/32.11.2272. [PubMed:115309 ]
Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212 ]

Only showing the first 10 proteins. There are 16 proteins in total.

Show all enzymes and transporters

Enzymes

Enzyme Details

1. Carnitine O-acetyltransferase

General function:: Involved in acyltransferase activity
Specific function:: Carnitine acetylase is specific for short chain fatty acids. Carnitine acetylase seems to affect the flux through the pyruvate dehydrogenase complex. It may be involved as well in the transport of acetyl-CoA into mitochondria.
Gene Name:: CRAT
Uniprot ID:: P43155
Molecular weight:: 70875.095

Reactions

Acetyl-CoA + L-Carnitine → Coenzyme A + L-Acetylcarnitine	details

References

Jogl G, Tong L: Crystal structure of carnitine acetyltransferase and implications for the catalytic mechanism and fatty acid transport. Cell. 2003 Jan 10;112(1):113-22. [PubMed:12526798 ]
Wu D, Govindasamy L, Lian W, Gu Y, Kukar T, Agbandje-McKenna M, McKenna R: Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer. J Biol Chem. 2003 Apr 11;278(15):13159-65. Epub 2003 Jan 31. [PubMed:12562770 ]
Vikramadithyan RK, Hiriyan J, Suresh J, Gershome C, Babu RK, Misra P, Rajagopalan R, Chakrabarti R: DRF 2655: a unique molecule that reduces body weight and ameliorates metabolic abnormalities. Obes Res. 2003 Feb;11(2):292-303. [PubMed:12582227 ]
Govindasamy L, Kukar T, Lian W, Pedersen B, Gu Y, Agbandje-McKenna M, Jin S, McKenna R, Wu D: Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase. J Struct Biol. 2004 Jun;146(3):416-24. [PubMed:15099582 ]
Cordente AG, Lopez-Vinas E, Vazquez MI, Swiegers JH, Pretorius IS, Gomez-Puertas P, Hegardt FG, Asins G, Serra D: Redesign of carnitine acetyltransferase specificity by protein engineering. J Biol Chem. 2004 Aug 6;279(32):33899-908. Epub 2004 May 21. [PubMed:15155769 ]

Enzyme Details

2. Xanthine dehydrogenase/oxidase

General function:: Involved in oxidoreductase activity
Specific function:: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).
Gene Name:: XDH
Uniprot ID:: P47989
Molecular weight:: 146422.99

References

Di Giacomo C, Latteri F, Fichera C, Sorrenti V, Campisi A, Castorina C, Russo A, Pinturo R, Vanella A: Effect of acetyl-L-carnitine on lipid peroxidation and xanthine oxidase activity in rat skeletal muscle. Neurochem Res. 1993 Nov;18(11):1157-62. [PubMed:8255367 ]

Enzyme Details

3. Myeloperoxidase

General function:: Involved in peroxidase activity
Specific function:: Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity.
Gene Name:: MPO
Uniprot ID:: P05164
Molecular weight:: 83867.71

References

Derin N, Agac A, Bayram Z, Asar M, Izgut-Uysal VN: Effects of L-carnitine on neutrophil-mediated ischemia-reperfusion injury in rat stomach. Cell Biochem Funct. 2006 Sep-Oct;24(5):437-42. [PubMed:16130180 ]

Enzyme Details

4. Peroxisomal carnitine O-octanoyltransferase

General function:: Involved in acyltransferase activity
Specific function:: Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.
Gene Name:: CROT
Uniprot ID:: Q9UKG9
Molecular weight:: 10213.63

Reactions

Octanoyl-CoA + L-Carnitine → Coenzyme A + Octanoylcarnitine	details

References

Cordente AG, Lopez-Vinas E, Vazquez MI, Swiegers JH, Pretorius IS, Gomez-Puertas P, Hegardt FG, Asins G, Serra D: Redesign of carnitine acetyltransferase specificity by protein engineering. J Biol Chem. 2004 Aug 6;279(32):33899-908. Epub 2004 May 21. [PubMed:15155769 ]
Cordente AG, Lopez-Vinas E, Vazquez MI, Gomez-Puertas P, Asins G, Serra D, Hegardt FG: Mutagenesis of specific amino acids converts carnitine acetyltransferase into carnitine palmitoyltransferase. Biochemistry. 2006 May 16;45(19):6133-41. [PubMed:16681386 ]

Enzyme Details

5. Carnitine O-palmitoyltransferase 1, muscle isoform

General function:: Involved in acyltransferase activity
Specific function:: Not Available
Gene Name:: CPT1B
Uniprot ID:: Q92523
Molecular weight:: 83890.705

Reactions

Palmityl-CoA + L-Carnitine → Coenzyme A + Palmitoylcarnitine	details

Enzyme Details

6. Carnitine O-palmitoyltransferase 1, liver isoform

General function:: Involved in acyltransferase activity
Specific function:: Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
Gene Name:: CPT1A
Uniprot ID:: P50416
Molecular weight:: 86238.415

Reactions

Palmityl-CoA + L-Carnitine → Coenzyme A + Palmitoylcarnitine	details

References

Xu ZR, Wang MQ, Mao HX, Zhan XA, Hu CH: Effects of L-carnitine on growth performance, carcass composition, and metabolism of lipids in male broilers. Poult Sci. 2003 Mar;82(3):408-13. [PubMed:12705401 ]
Morillas M, Lopez-Vinas E, Valencia A, Serra D, Gomez-Puertas P, Hegardt FG, Asins G: Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. Biochem J. 2004 May 1;379(Pt 3):777-84. [PubMed:14711372 ]
Tripodi G, Modica R, Stella A, Bigatti G, Bianchi G, Stella P: Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension. J Ren Nutr. 2005 Jan;15(1):2-7. [PubMed:15647998 ]
Waldner R, Laschan C, Lohninger A, Gessner M, Tuchler H, Huemer M, Spiegel W, Karlic H: Effects of doxorubicin-containing chemotherapy and a combination with L-carnitine on oxidative metabolism in patients with non-Hodgkin lymphoma. J Cancer Res Clin Oncol. 2006 Feb;132(2):121-8. Epub 2005 Nov 8. [PubMed:16283381 ]
Shin ES, Cho SY, Lee EH, Lee SJ, Chang IS, Lee TR: Positive regulation of hepatic carnitine palmitoyl transferase 1A (CPT1A) activities by soy isoflavones and L-carnitine. Eur J Nutr. 2006 Mar;45(3):159-64. Epub 2005 Dec 20. [PubMed:16362726 ]
Chen X, Ji ZL, Chen YZ: TTD: Therapeutic Target Database. Nucleic Acids Res. 2002 Jan 1;30(1):412-5. [PubMed:11752352 ]

Enzyme Details

7. Carnitine O-palmitoyltransferase 2, mitochondrial

General function:: Involved in acyltransferase activity
Specific function:: Not Available
Gene Name:: CPT2
Uniprot ID:: P23786
Molecular weight:: 73776.335

Reactions

Palmityl-CoA + L-Carnitine → Coenzyme A + Palmitoylcarnitine	details

References

Barrero MJ, Camarero N, Marrero PF, Haro D: Control of human carnitine palmitoyltransferase II gene transcription by peroxisome proliferator-activated receptor through a partially conserved peroxisome proliferator-responsive element. Biochem J. 2003 Feb 1;369(Pt 3):721-9. [PubMed:12408750 ]
Kong JY, Rabkin SW: Lovastatin does not accentuate but is rather additive to palmitate-induced apoptosis in cardiomyocytes. Prostaglandins Leukot Essent Fatty Acids. 2002 Nov;67(5):293-302. [PubMed:12445488 ]
Rasmussen BB, Holmback UC, Volpi E, Morio-Liondore B, Paddon-Jones D, Wolfe RR: Malonyl coenzyme A and the regulation of functional carnitine palmitoyltransferase-1 activity and fat oxidation in human skeletal muscle. J Clin Invest. 2002 Dec;110(11):1687-93. [PubMed:12464674 ]
Price NT, Jackson VN, van der Leij FR, Cameron JM, Travers MT, Bartelds B, Huijkman NC, Zammit VA: Cloning and expression of the liver and muscle isoforms of ovine carnitine palmitoyltransferase 1: residues within the N-terminus of the muscle isoform influence the kinetic properties of the enzyme. Biochem J. 2003 Jun 15;372(Pt 3):871-9. [PubMed:12662154 ]
Lehtihet M, Welsh N, Berggren PO, Cook GA, Sjoholm A: Glibenclamide inhibits islet carnitine palmitoyltransferase 1 activity, leading to PKC-dependent insulin exocytosis. Am J Physiol Endocrinol Metab. 2003 Aug;285(2):E438-46. Epub 2003 Apr 8. [PubMed:12684219 ]

Enzyme Details

8. Carnitine O-palmitoyltransferase 1, brain isoform

General function:: Involved in acyltransferase activity
Specific function:: Not Available
Gene Name:: CPT1C
Uniprot ID:: Q8TCG5
Molecular weight:: 89712.575

Reactions

Palmityl-CoA + L-Carnitine → Coenzyme A + Palmitoylcarnitine	details

Enzyme Details

9. Gamma-butyrobetaine dioxygenase

General function:: Involved in iron ion binding
Specific function:: Catalyzes the formation of L-carnitine from gamma-butyrobetaine.
Gene Name:: BBOX1
Uniprot ID:: O75936
Molecular weight:: 44714.6

Reactions

4-Trimethylammoniobutanoic acid + Oxoglutaric acid + Oxygen → L-Carnitine + Succinic acid + CO(2)	details
4-Trimethylammoniobutanoic acid + Oxoglutaric acid + Oxygen → L-Carnitine + Succinic acid + Carbon dioxide	details

Enzyme Details

10. Liver carboxylesterase 1

General function:: Lipid transport and metabolism
Specific function:: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate.
Gene Name:: CES1
Uniprot ID:: P23141
Molecular weight:: 62520.62

References

Bell FP: Carnitine ester hydrolysis in arteries from normal and cholesterol-fed rabbits and the effects of carnitine esters on arterial microsomal ACAT. Comp Biochem Physiol B. 1984;79(2):125-8. [PubMed:6509906 ]

Transporters

Enzyme Details

1. Solute carrier organic anion transporter family member 1B1

General function:: Involved in transporter activity
Specific function:: Mediates the Na(+)-independent transport of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. May play an important role in the clearance of bile acids and organic anions from the liver
Gene Name:: SLCO1B1
Uniprot ID:: Q9Y6L6
Molecular weight:: 76448.0

References

Nozawa T, Tamai I, Sai Y, Nezu J, Tsuji A: Contribution of organic anion transporting polypeptide OATP-C to hepatic elimination of the opioid pentapeptide analogue [D-Ala2, D-Leu5]-enkephalin. J Pharm Pharmacol. 2003 Jul;55(7):1013-20. [PubMed:12906759 ]

Enzyme Details

2. Solute carrier family 22 member 5

General function:: Involved in ion transmembrane transporter activity
Specific function:: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3
Gene Name:: SLC22A5
Uniprot ID:: O76082
Molecular weight:: 62751.1

References

Lahjouji K, Elimrani I, Wu J, Mitchell GA, Qureshi IA: A heterozygote phenotype is present in the jvs +/- mutant mouse livers. Mol Genet Metab. 2002 May;76(1):76-80. [PubMed:12175785 ]
Kristufek D, Rudorfer W, Pifl C, Huck S: Organic cation transporter mRNA and function in the rat superior cervical ganglion. J Physiol. 2002 Aug 15;543(Pt 1):117-34. [PubMed:12181285 ]
Ohashi R, Tamai I, Inano A, Katsura M, Sai Y, Nezu J, Tsuji A: Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. J Pharmacol Exp Ther. 2002 Sep;302(3):1286-94. [PubMed:12183691 ]
Hou JW: Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. Chang Gung Med J. 2002 Dec;25(12):832-7. [PubMed:12635840 ]
Friedrich A, Prasad PD, Freyer D, Ganapathy V, Brust P: Molecular cloning and functional characterization of the OCTN2 transporter at the RBE4 cells, an in vitro model of the blood-brain barrier. Brain Res. 2003 Apr 4;968(1):69-79. [PubMed:12644265 ]
Tamai I, China K, Sai Y, Kobayashi D, Nezu J, Kawahara E, Tsuji A: Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney. Biochim Biophys Acta. 2001 Jun 6;1512(2):273-84. [PubMed:11406104 ]
Elimrani I, Lahjouji K, Seidman E, Roy MJ, Mitchell GA, Qureshi I: Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells. Am J Physiol Gastrointest Liver Physiol. 2003 May;284(5):G863-71. Epub 2003 Jan 10. [PubMed:12684216 ]
Ohashi R, Tamai I, Yabuuchi H, Nezu JI, Oku A, Sai Y, Shimane M, Tsuji A: Na(+)-dependent carnitine transport by organic cation transporter (OCTN2): its pharmacological and toxicological relevance. J Pharmacol Exp Ther. 1999 Nov;291(2):778-84. [PubMed:10525100 ]
Tamai I, Ohashi R, Nezu JI, Sai Y, Kobayashi D, Oku A, Shimane M, Tsuji A: Molecular and functional characterization of organic cation/carnitine transporter family in mice. J Biol Chem. 2000 Dec 22;275(51):40064-72. [PubMed:11010964 ]
Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. J Pharmacol Exp Ther. 1999 Sep;290(3):1482-92. [PubMed:10454528 ]

Enzyme Details

3. Solute carrier family 22 member 4

General function:: Involved in ion transmembrane transporter activity
Specific function:: Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET)
Gene Name:: SLC22A4
Uniprot ID:: Q9H015
Molecular weight:: 62154.5

References

Kristufek D, Rudorfer W, Pifl C, Huck S: Organic cation transporter mRNA and function in the rat superior cervical ganglion. J Physiol. 2002 Aug 15;543(Pt 1):117-34. [PubMed:12181285 ]
Amat di San Filippo C, Wang Y, Longo N: Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem. 2003 Nov 28;278(48):47776-84. Epub 2003 Sep 23. [PubMed:14506273 ]
Lamhonwah AM, Ackerley C, Onizuka R, Tilups A, Lamhonwah D, Chung C, Tao KS, Tellier R, Tein I: Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31. Biochem Biophys Res Commun. 2005 Dec 2;337(4):1165-75. Epub 2005 Oct 6. [PubMed:16246312 ]
Lash LH, Putt DA, Cai H: Membrane transport function in primary cultures of human proximal tubular cells. Toxicology. 2006 Dec 7;228(2-3):200-18. Epub 2006 Sep 1. [PubMed:16997449 ]
Yabuuchi H, Tamai I, Nezu J, Sakamoto K, Oku A, Shimane M, Sai Y, Tsuji A: Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations. J Pharmacol Exp Ther. 1999 May;289(2):768-73. [PubMed:10215651 ]
Tamai I, Ohashi R, Nezu JI, Sai Y, Kobayashi D, Oku A, Shimane M, Tsuji A: Molecular and functional characterization of organic cation/carnitine transporter family in mice. J Biol Chem. 2000 Dec 22;275(51):40064-72. [PubMed:11010964 ]

Enzyme Details

4. Solute carrier family 22 member 16

General function:: Involved in transporter activity
Specific function:: High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent
Gene Name:: SLC22A16
Uniprot ID:: Q86VW1
Molecular weight:: 64613.6

References

Enomoto A, Wempe MF, Tsuchida H, Shin HJ, Cha SH, Anzai N, Goto A, Sakamoto A, Niwa T, Kanai Y, Anders MW, Endou H: Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition. J Biol Chem. 2002 Sep 27;277(39):36262-71. Epub 2002 Jun 27. [PubMed:12089149 ]

Only showing the first 10 proteins. There are 16 proteins in total.

Show all enzymes and transporters

Showing metabocard for L-Carnitine (HMDB0000062)

MOL for HMDB0000062 (L-Carnitine)

3D MOL for HMDB0000062 (L-Carnitine)

3D SDF for HMDB0000062 (L-Carnitine)

3D-SDF for HMDB0000062 (L-Carnitine)

PDB for HMDB0000062 (L-Carnitine)

3D PDB for HMDB0000062 (L-Carnitine)

SMILES for HMDB0000062 (L-Carnitine)

INCHI for HMDB0000062 (L-Carnitine)

Structure for HMDB0000062 (L-Carnitine)

3D Structure for HMDB0000062 (L-Carnitine)

Experimental Collision Cross Sections

Predicted Collision Cross Sections

Predicted Kovats Retention Indices

Underivatized

Derivatized

GC-MS Spectra

MS/MS Spectra

NMR Spectra

IR Spectra

Enzymes

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Transporters

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