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Record Information

Version

5.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2023-05-30 20:56:02 UTC

HMDB ID

HMDB0000754

Secondary Accession Numbers

HMDB00754

Metabolite Identification

Common Name

3-Hydroxyisovaleric acid

Description

3-Hydroxyisovaleric acid is a normal human metabolite excreted in the urine. It is a byproduct of the leucine degradation pathway. Production of 3-hydroxyisovaleric acid begins with the conversion of 3-methylcrotonyl-CoA into 3-methylglutaconyl-CoA in the mitochondria by the biotin-dependent enzyme methylcrotonyl-CoA carboxylase. Biotin deficiencies, certain lifestyle habits (smoking), or specific genetic conditions can reduce methylcrotonyl-CoA carboxylase activity. This reduction can lead to a buildup of 3-methylcrotonyl-CoA, which is converted into 3-hydroxyisovaleryl-CoA by the enzyme enoyl-CoA hydratase. Increased concentrations of 3-methylcrotonyl-CoA and 3-hydroxyisovaleryl-CoA can lead to a disruption of the esterified CoA:free CoA ratio, and ultimately to mitochondrial toxicity. Detoxification of these metabolic end products occur via the transfer of the 3-hydroxyisovaleryl moiety to carnitine forming 3-hydroxyisovaleric acid-carnitine or 3HIA-carnitine, which is then transferred across the inner mitochondrial membrane where 3-hydroxyisovaleric acid is released as the free acid (PMID: 21918059 ). 3-Hydroxyisovaleric acid has been found to be elevated in smokers and in subjects undergoing long-term anticonvulsant therapy with carbamazepine and/or phenytoin. These levels are elevated due to impairment of renal reclamation of biotin. Levels may also be increased from prolonged consumption of raw egg-whites (PMID: 16895887 , 9523856 , 15447901 , 9176832 ) (OMIM: 210210 , 253270 , 600529 , 253260 , 246450 , 210200 , 238331 ). When present in sufficiently high levels, 3-hydroxyisovaleric acid can act as an acidogen and a metabotoxin. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of 3-hydroxyisovaleric acid are associated with at least a dozen inborn errors of metabolism, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 3-methylglutaconic aciduria type I, biotinidase deficiency and isovaleric aciduria, dihydrolipoamide dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, late-onset multiple carboxylase deficiency, holocarboxylase synthetase deficiency, and 3-methylcrotonyl-CoA carboxylase 2 deficiency. 3-Hydroxyisovaleric acid is an organic acid. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development. In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures.

Structure

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

View in JSmol View NMR Assignments View Stereo Labels

Synonyms

Value	Source
3-Hydroxy-3-methylbutyric acid	ChEBI
3-Hydroxy-isovaleric acid	ChEBI
3-Methyl-3-hydroxybutyric acid	ChEBI
3-OH-Isovaleric acid	ChEBI
beta-Hydroxy-beta-methylbutyric acid	ChEBI
beta-Hydroxyisovaleric acid	ChEBI
HMB	ChEBI
HMB-D6	ChEBI
3-Hydroxy-3-methylbutyrate	Generator
3-Hydroxy-isovalerate	Generator
3-Methyl-3-hydroxybutyrate	Generator
3-OH-Isovalerate	Generator
b-Hydroxy-b-methylbutyrate	Generator
b-Hydroxy-b-methylbutyric acid	Generator
beta-Hydroxy-beta-methylbutyrate	Generator
Β-hydroxy-β-methylbutyrate	Generator
Β-hydroxy-β-methylbutyric acid	Generator
b-Hydroxyisovalerate	Generator
b-Hydroxyisovaleric acid	Generator
beta-Hydroxyisovalerate	Generator
Β-hydroxyisovalerate	Generator
Β-hydroxyisovaleric acid	Generator
3-Hydroxyisovalerate	Generator
beta Hydroxy beta methylbutyrate	HMDB
beta-Hydroxy beta-methylbutyrate	HMDB
3-Hydroxy-3-methyl-butanoate	HMDB
3-Hydroxy-3-methyl-butanoic acid	HMDB
3-Hydroxy-3-methyl-butyric acid	HMDB
3-Hydroxy-3-methylbutanoate	HMDB
3-Hydroxy-3-methylbutanoic acid	HMDB
3-Hydroxyisovaleric acid	MeSH

Chemical Formula

C₅H₁₀O₃

Average Molecular Weight

118.1311

Monoisotopic Molecular Weight

118.062994186

IUPAC Name

3-hydroxy-3-methylbutanoic acid

Traditional Name

3-hydroxyisovaleric acid

CAS Registry Number

625-08-1

SMILES

CC(C)(O)CC(O)=O

InChI Identifier

InChI=1S/C5H10O3/c1-5(2,8)3-4(6)7/h8H,3H2,1-2H3,(H,6,7)

InChI Key

AXFYFNCPONWUHW-UHFFFAOYSA-N

Chemical Taxonomy

Description

Belongs to the class of organic compounds known as hydroxy fatty acids. These are fatty acids in which the chain bears a hydroxyl group.

Kingdom

Organic compounds

Super Class

Lipids and lipid-like molecules

Class

Fatty Acyls

Sub Class

Fatty acids and conjugates

Direct Parent

Hydroxy fatty acids

Alternative Parents

Substituents

Methyl-branched fatty acid
Short-chain hydroxy acid
Hydroxy fatty acid
Branched fatty acid
Tertiary alcohol
Monocarboxylic acid or derivatives
Carboxylic acid
Carboxylic acid derivative
Organic oxygen compound
Organic oxide
Hydrocarbon derivative
Organooxygen compound
Carbonyl group
Alcohol
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

3-hydroxy monocarboxylic acid (CHEBI:37084 )
Hydroxy fatty acids (LMFA01050396 )

Ontology

Physiological effect

Disposition

Biological location

Non-excretory biofluid

Biofluid or Excreta

Blood (PMID: 16541463)
Cerebrospinal Fluid (CSF) (PMID: 18502700)
Saliva (PMID: 31026179)
Cerebrospinal fluid (HMDB: HMDB0000754)

Cell

Fibroblast

Fibroblast (HMDB: HMDB0000754)

Fibroblasts (HMDB: HMDB0000754)

Organ

Placenta (HMDB: HMDB0000754)

Excreta

Biofluid or Excreta

Urine (PMID: 8087979)
Feces (PMID: 18085514)

Cellular substructure

Organelle

Adiposome (HMDB: HMDB0000754)

Route of exposure

Enteral

Ingestion (HMDB: HMDB0000754)

Source

Exogenous

Exogenous (HMDB: HMDB0000754)

Food

Food (HMDB: HMDB0000754)

Endogenous

Endogenous (HMDB: HMDB0000754)

Animal

Animal (HMDB: HMDB0000754)

Process

Role

Biological role

Metabolite (HMDB: HMDB0000754)
Energy source (HMDB: HMDB0000754)

Indirect biological role

Metabotoxin

Metabotoxin (HMDB: HMDB0000754)

Industrial application

Pharmaceutical industry

Biomarker

Preeclampsia/Eclampsia (MarkerDB: MDB00013435)
Diabetes mellitus type 2 (MarkerDB: MDB00013435)
Lung Cancer (MarkerDB: MDB00013435)
Biotinidase deficiency (MarkerDB: MDB00013435)
3 Hydroxy 3 Methylglutaryl Co A Lyase Deficiency (MarkerDB: MDB00013435)
3-Methylglutaconic aciduria type I (MarkerDB: MDB00013435)

Physical Properties

State

Solid

Experimental Molecular Properties

Property	Value	Reference
Melting Point	65 - 67 °C	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	Not Available	Not Available
LogP	6.300	The Good Scents Company Information System

Experimental Chromatographic Properties

Not Available

Predicted Molecular Properties

Property	Value	Source
Water Solubility	384 g/L	ALOGPS
logP	-0.12	ALOGPS
logP	-0.11	ChemAxon
logS	0.51	ALOGPS
pKa (Strongest Acidic)	4.55	ChemAxon
pKa (Strongest Basic)	-2.7	ChemAxon
Physiological Charge	-1	ChemAxon
Hydrogen Acceptor Count	3	ChemAxon
Hydrogen Donor Count	2	ChemAxon
Polar Surface Area	57.53 Å²	ChemAxon
Rotatable Bond Count	2	ChemAxon
Refractivity	28.1 m³·mol⁻¹	ChemAxon
Polarizability	11.75 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
DarkChem	[M+H]+	124.83	31661259
DarkChem	[M-H]-	118.438	31661259
AllCCS	[M+H]+	127.488	32859911
AllCCS	[M-H]-	125.814	32859911
DeepCCS	[M+H]+	128.273	30932474
DeepCCS	[M-H]-	125.416	30932474
DeepCCS	[M-2H]-	161.789	30932474
DeepCCS	[M+Na]+	136.728	30932474
AllCCS	[M+H]+	127.5	32859911
AllCCS	[M+H-H2O]+	123.3	32859911
AllCCS	[M+NH4]+	131.4	32859911
AllCCS	[M+Na]+	132.5	32859911
AllCCS	[M-H]-	125.8	32859911
AllCCS	[M+Na-2H]-	129.2	32859911
AllCCS	[M+HCOO]-	132.9	32859911

Predicted Kovats Retention Indices

Underivatized

Metabolite	SMILES	Kovats RI Value	Column Type	Reference
3-Hydroxyisovaleric acid	CC(C)(O)CC(O)=O	2194.1	Standard polar	33892256
3-Hydroxyisovaleric acid	CC(C)(O)CC(O)=O	956.3	Standard non polar	33892256
3-Hydroxyisovaleric acid	CC(C)(O)CC(O)=O	992.0	Semi standard non polar	33892256

Derivatized

Derivative Name / Structure	SMILES	Kovats RI Value	Column Type	Reference
3-Hydroxyisovaleric acid,1TMS,isomer #1	CC(C)(CC(=O)O)O[Si](C)(C)C	1144.9	Semi standard non polar	33892256
3-Hydroxyisovaleric acid,1TMS,isomer #2	CC(C)(O)CC(=O)O[Si](C)(C)C	1046.0	Semi standard non polar	33892256
3-Hydroxyisovaleric acid,2TMS,isomer #1	CC(C)(CC(=O)O[Si](C)(C)C)O[Si](C)(C)C	1216.4	Semi standard non polar	33892256
3-Hydroxyisovaleric acid,1TBDMS,isomer #1	CC(C)(CC(=O)O)O[Si](C)(C)C(C)(C)C	1403.1	Semi standard non polar	33892256
3-Hydroxyisovaleric acid,1TBDMS,isomer #2	CC(C)(O)CC(=O)O[Si](C)(C)C(C)(C)C	1268.8	Semi standard non polar	33892256
3-Hydroxyisovaleric acid,2TBDMS,isomer #1	CC(C)(CC(=O)O[Si](C)(C)C(C)(C)C)O[Si](C)(C)C(C)(C)C	1657.2	Semi standard non polar	33892256

Spectra

GC-MS Spectra

Spectrum Type	Description	Splash Key	Deposition Date	Source	View
Experimental GC-MS	GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)	splash10-000t-0900000000-56f9e1ee9e19bacfc939	2014-06-16	HMDB team, MONA, MassBank	View Spectrum
Experimental GC-MS	GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-EI-TOF (Non-derivatized)	splash10-000t-0900000000-56f9e1ee9e19bacfc939	2017-09-12	HMDB team, MONA, MassBank	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (Non-derivatized) - 70eV, Positive	splash10-0a4i-9100000000-0809a885d114ba6b21d7	2017-09-01	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (2 TMS) - 70eV, Positive	splash10-0089-6910000000-3573bf97996ef7107955	2017-10-06	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (Non-derivatized) - 70eV, Positive	Not Available	2021-10-12	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (TMS_1_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (TMS_1_2) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (TBDMS_1_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (TBDMS_1_2) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 3-Hydroxyisovaleric acid GC-MS (TBDMS_2_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
MS	Mass Spectrum (Electron Ionization)	splash10-052f-9000000000-c15a37ad10e6379350aa	2014-09-20	Not Available	View Spectrum

MS/MS Spectra

Spectrum Type	Description	Splash Key	Deposition Date	Source	View
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 35V, Negative-QTOF	splash10-0006-9000000000-1381eacc487b12932a43	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 20V, Negative-QTOF	splash10-00dj-9000000000-f10c5afd9954f294ea91	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 10V, Negative-QTOF	splash10-00xr-9600000000-3b24b27c64b89a6a5b25	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid Quattro_QQQ 10V, Positive-QTOF (Annotated)	splash10-0a4i-9300000000-e715db06e575104deccd	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid Quattro_QQQ 25V, Positive-QTOF (Annotated)	splash10-0a4i-9000000000-885e3d959712c9998250	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid Quattro_QQQ 40V, Positive-QTOF (Annotated)	splash10-0avi-9800000000-f0296f537bd22b26f173	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 35V, Positive-QTOF	splash10-014i-1900000000-b947237de42eec92a67e	2021-09-20	HMDB team, MONA	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 10V, Negative-QTOF	splash10-00xr-9400000000-13e4ec512c0fde3123ab	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 20V, Negative-QTOF	splash10-05tb-9200000000-96c7d7b3f54e7377a875	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 40V, Negative-QTOF	splash10-0aba-9000000000-3cc71227974213e131c4	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 10V, Negative-QTOF	splash10-00kb-9400000000-9721ad435e43092a072d	2021-09-22	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 20V, Negative-QTOF	splash10-0a4i-9000000000-13f5bd4a628f51aec810	2021-09-22	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 40V, Negative-QTOF	splash10-052f-9000000000-0eeab2c474971ae60e7b	2021-09-22	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 10V, Positive-QTOF	splash10-0ue9-5900000000-2f664d0b967c87e7358c	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 20V, Positive-QTOF	splash10-0zn9-9500000000-233e5cd462b504c09d3c	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 40V, Positive-QTOF	splash10-0a4i-9000000000-62361f03b7c7a0d82bc4	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 10V, Positive-QTOF	splash10-0udi-8900000000-a25104a0136877edd57e	2021-09-22	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 20V, Positive-QTOF	splash10-052f-9000000000-d2d6bcff64e0a706fc95	2021-09-22	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 3-Hydroxyisovaleric acid 40V, Positive-QTOF	splash10-0006-9000000000-65f5183bc669daba34f4	2021-09-22	Wishart Lab	View Spectrum

NMR Spectra

Spectrum Type	Description	Deposition Date	Source	View
Predicted 1D NMR	¹³C NMR Spectrum (1D, 100 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 100 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 1000 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 1000 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 200 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 200 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 300 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 300 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 400 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 400 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 500 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 500 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 600 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 600 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 700 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 700 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 800 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 800 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 900 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 900 MHz, D₂O, predicted)	2021-09-24	Wishart Lab	View Spectrum
Experimental 1D NMR	¹H NMR Spectrum (1D, 600 MHz, H₂O, experimental)	2021-10-10	Wishart Lab	View Spectrum
Experimental 1D NMR	¹H NMR Spectrum (1D, 600 MHz, H₂O, experimental)	2021-10-10	Wishart Lab	View Spectrum
Experimental 2D NMR	[¹H, ¹³C]-HSQC NMR Spectrum (2D, 600 MHz, H₂O, experimental)	2012-12-05	Wishart Lab	View Spectrum

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 (predicted from logP)

Biospecimen Locations

Blood
Cerebrospinal Fluid (CSF)
Feces
Saliva
Urine

Tissue Locations

Fibroblasts
Placenta

Pathways

Not Available

Name	SMPDB/PathBank	KEGG

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	4.0 (0.0 - 10.0) uM	Adult (>18 years old)	Not Specified	Normal	16541463	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Normal	27355821	details
Blood	Detected and Quantified	<10 uM	Adult (>18 years old)	Female	Normal	16541463	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21505807	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	4.0 +/- 2.0 uM	Adult (>18 years old)	Both	Normal	18502700	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	<10 uM	Adult (>18 years old)	Female	Normal	16541463	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 but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	18085514	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	29808030	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	27065191	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22932811	details
Urine	Detected and Quantified	<50 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	15505778	details
Urine	Detected and Quantified	<50 umol/mmol creatinine	Children (1 - 13 years old)	Female	Normal	2587127	details
Urine	Detected and Quantified	6 +/- 4 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	11893004	details
Urine	Detected and Quantified	12.2 (0.1-43.2) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	8087979	details
Urine	Detected and Quantified	7.5 (5.1-23.1) umol/mmol creatinine	Children (1-13 years old)	Both	Normal	8087979	details
Urine	Detected and Quantified	9.0 (3.1-17.4) umol/mmol creatinine	Adolescent (13-18 years old)	Both	Normal	8087979	details
Urine	Detected and Quantified	4.3-5.7 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	27012787	details
Urine	Detected and Quantified	11.427 +/- 7.8 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Analysis of 30 no...	details
Urine	Detected and Quantified	3.56 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	Shaykhutdinov RA,...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	2.0 (0.0-4.0) umol/mmol creatinine	Children (1-13 years old)	Both	Normal	Geigy Scientific ...	details
Urine	Detected and Quantified	15.0 (5.0-26.0) umol/mmol creatinine	Children (1-13 years old)	Both	Normal	Geigy Scientific ...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21389975	details
Urine	Detected and Quantified	11 (6.9-25) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	2702744	details
Urine	Detected and Quantified	<68 umol/mmol creatinine	Children (1 - 18 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	<46 umol/mmol creatinine	Not Specified	Not Specified	Normal	23705938	details
Urine	Detected and Quantified	0-1.3 umol/mmol creatinine	Infant (0-1 year old)	Male	Normal	31963255	details
Urine	Detected and Quantified	0-1.3 umol/mmol creatinine	Infant (0-1 year old)	Female	Normal	31963255	details
Urine	Detected and Quantified	4.5-6.3 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	27012787	details
Urine	Detected and Quantified	0.0-3.2 umol/mmol creatinine	Infant (0-1 year old)	Female	Normal	31963255	details
Urine	Detected and Quantified	26.9 (9.1-66.4) umol/mmol creatinine	Infant (0-1 year old)	Both	Normal	8087979	details
Urine	Detected and Quantified	<50 umol/mmol creatinine	Not Specified	Not Specified	Normal	15505778	details
Urine	Detected and Quantified	7.4 (4.1-17.2) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	6.8 (3.2-21.8) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	10.50 (7.02 – 14.38) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	Lorena Ivona ŞTEF...	details
Urine	Detected and Quantified	<0.0420 umol/mmol creatinine	Not Specified	Not Specified	Normal	16527507	details
Urine	Detected and Quantified	40.486 +/- 23.766 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Analysis of 30 no...	details
Urine	Detected and Quantified	8.5 +/- 3.2 umol/mmol creatinine	Adult (>18 years old)	Both	Normal	21892638	details
Urine	Detected and Quantified	7.21 (4.65-11.74) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	Analysis of 40 NI...	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	9.5 (0.00-19.00) uM	Adult (>18 years old)	Both	Biotinidase deficiency	MetaGene: Metabol...	details
Blood	Detected and Quantified	88.0 (10.0-166.0) uM	Children (1-13 years old)	Both	Biotinidase deficiency	MetaGene: Metabol...	details
Blood	Detected and Quantified	7.38 +/- 4.18 uM	Adult (>18 years old)	Female	Pregnancy with fetuses with trisomy 18	23535240	details
Blood	Detected and Quantified	5.24 +/- 3.84 uM	Adult (>18 years old)	Female	Pregnancy	23535240	details
Blood	Detected and Quantified	9.2 (1.7) uM	Adult (>18 years old)	Female	Early preeclampsia	22494326	details
Blood	Detected and Quantified	7.6 (3.1) uM	Adult (>18 years old)	Female	Pregnancy	22494326	details
Blood	Detected and Quantified	20 uM	Adult (>18 years old)	Female	3-methylglutaconic aciduria type I	16541463	details
Blood	Detected and Quantified	10.0 (10.0 - 20.0) uM	Adult (>18 years old)	Both	3-Methylglutaconic aciduria type I	16541463	details
Blood	Detected and Quantified	6.5 (3.3) uM	Adult (>18 years old)	Female	Late-onset preeclampsia	23159745	details
Blood	Detected and Quantified	4.7 (2.5) uM	Adult (>18 years old)	Female	Pregnancy	23159745	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Pancreatic cancer	21505807	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	12 uM	Children (1 - 13 years old)	Not Specified	Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency	11893004	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	172 uM	Adult (>18 years old)	Female	3-methylglutaconic aciduria type I	16541463	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)	Male	Attachment loss	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Periodontal Probing Depth	31026179	details
Urine	Detected and Quantified	851 umol/mmol creatinine	Adult (>18 years old)	Female	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	15505778	details
Urine	Detected and Quantified	1154.8 umol/mmol creatinine	Newborn (0-30 days old)	Male	3-hydroxy-3-methylglutaric- coenzyme A lyase deficiency	23705938	details
Urine	Detected and Quantified	2974 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency	11893004	details
Urine	Detected and Quantified	1900 +/- 500 umol/mmol creatinine	Adult (>18 years old)	Both	3-Methylcrotonyl-CoA Carboxylase Deficiency	25732994	details
Urine	Detected and Quantified	210-230 umol/mmol creatinine	Children (1 - 13 years old)	Female	Leigh's syndrome	2587127	details
Urine	Detected and Quantified	275.0 (50.0-500.0) umol/mmol creatinine	Children (1-13 years old)	Both	Biotinidase deficiency	MetaGene: Metabol...	details
Urine	Detected and Quantified	12.757 +/- 10.313 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Analysis of 30 no...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Autosomal dominant polycystic kidney disease (ADPKD)	21389975	details
Urine	Detected and Quantified	1154.8 umol/mmol creatinine	Newborn (0-30 days old)	Male	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	23705938	details
Urine	Detected and Quantified	6.0 +/- 2.0 umol/mmol creatinine	Adult (>18 years old)	Both	Lung cancer	18953024	details
Urine	Detected and Quantified	851 umol/mmol creatinine	Adult (>18 years old)	Female	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	15505778	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Bladder cancer	28157703	details
Urine	Detected and Quantified	10.78 (4.94 – 21.07) umol/mmol creatinine	Adult (>18 years old)	Both	Type 1 diabetes Mellitus	Lorena Ivona ŞTEF...	details
Urine	Detected and Quantified	0.0100-0.0460 umol/mmol creatinine	Children (1-13 years old)	Female	3-Methylglutaconic Aciduria (Type VI)	16527507	details
Urine	Detected and Quantified	247.428 +/- 452.008 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Analysis of 30 no...	details
Urine	Detected and Quantified	119.783 +/- 114.263 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Gastroesophageal reflux disease	Analysis of 30 no...	details
Urine	Detected and Quantified	23.0 (0.0-46.0) umol/mmol creatinine	Adult (>18 years old)	Both	3-Hydroxy-3-methylglutaryl-CoA lyase deficiency	MetaGene: Metabol...	details
Urine	Detected and Quantified	2030.0 (60.0-4000.0) umol/mmol creatinine	Children (1-13 years old)	Both	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	MetaGene: Metabol...	details

Associated Disorders and Diseases

Disease References

3-Methylglutaconic aciduria type I
Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed:16541463 ]
Biotinidase deficiency
G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Pancreatic cancer
OuYang D, Xu J, Huang H, Chen Z: Metabolomic profiling of serum from human pancreatic cancer patients using 1H NMR spectroscopy and principal component analysis. Appl Biochem Biotechnol. 2011 Sep;165(1):148-54. doi: 10.1007/s12010-011-9240-0. Epub 2011 Apr 20. [PubMed:21505807 ]
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, 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 ]
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 ]
3-Methyl-crotonyl-glycinuria
de Kremer RD, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002 Mar;17(1):13-8. [PubMed:11893004 ] Thomsen JA, Lund AM, Olesen JH, Mohr M, Rasmussen J: Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep. 2015;21:79-88. doi: 10.1007/8904_2014_393. Epub 2015 Mar 3. [PubMed:25732994 ]
Colorectal cancer
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 ]
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 ]
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 ]
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 ]
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. [PubMed:15505778 ] Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ] G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Diabetes mellitus type 1
(). Lorena Ivona ŞTEFAN, Alina NICOLESCU, Simona POPA, Maria MOŢA, Eugenia KOVACS and Calin DELEANU. 1H-NMR URINE METABOLIC PROFILING IN TYPE 1 DIABETES MELLITUS. Rev. Roum. Chim., 2010, 55(11-12), 1033-1037 . .
Autosomal dominant polycystic kidney disease
Gronwald W, Klein MS, Zeltner R, Schulze BD, Reinhold SW, Deutschmann M, Immervoll AK, Boger CA, Banas B, Eckardt KU, Oefner PJ: Detection of autosomal dominant polycystic kidney disease by NMR spectroscopic fingerprinting of urine. Kidney Int. 2011 Jun;79(11):1244-53. doi: 10.1038/ki.2011.30. Epub 2011 Mar 9. [PubMed:21389975 ]
Eosinophilic esophagitis
Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work). NA.
3-Methylglutaconic Aciduria type VI
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. [PubMed:16527507 ]

Associated OMIM IDs

250950 (3-Methylglutaconic aciduria type I)
253260 (Biotinidase deficiency)
260350 (Pancreatic cancer)
210200 (3-Methyl-crotonyl-glycinuria)
114500 (Colorectal cancer)
211980 (Lung Cancer)
246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
222100 (Diabetes mellitus type 1)
601313 (Autosomal dominant polycystic kidney disease)
610247 (Eosinophilic esophagitis)
614739 (3-Methylglutaconic Aciduria type VI)

External Links

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FooDB ID

FDB022225

KNApSAcK ID

Not Available

Chemspider ID

62571

KEGG Compound ID

Not Available

BioCyc ID

Not Available

BiGG ID

Not Available

Wikipedia Link

Beta-Hydroxy_beta-methylbutyric_acid

METLIN ID

5722

PubChem Compound

69362

PDB ID

Not Available

ChEBI ID

37084

Food Biomarker Ontology

Not Available

VMH ID

3HIVAC

MarkerDB ID

MDB00013435

Good Scents ID

rw1687381

References

Synthesis Reference

Rudney, Harry. Biosynthesis of b-hydroxy-b-methylglutaric acid. Journal of Biological Chemistry (1957), 227 363-77.

Material Safety Data Sheet (MSDS)

Not Available

General References

Boulat O, Gradwohl M, Matos V, Guignard JP, Bachmann C: Organic acids in the second morning urine in a healthy Swiss paediatric population. Clin Chem Lab Med. 2003 Dec;41(12):1642-58. [PubMed:14708889 ]
Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
Mock DM, Stadler DD: Conflicting indicators of biotin status from a cross-sectional study of normal pregnancy. J Am Coll Nutr. 1997 Jun;16(3):252-7. [PubMed:9176832 ]
Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M: Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. J Inherit Metab Dis. 2005;28(2):229-33. [PubMed:15877210 ]
Amberg A, Rosner E, Dekant W: Biotransformation and kinetics of excretion of tert-amyl-methyl ether in humans and rats after inhalation exposure. Toxicol Sci. 2000 Jun;55(2):274-83. [PubMed:10828258 ]
Schurmann M, Engelbrecht V, Lohmeier K, Lenard HG, Wendel U, Gartner J: Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis. 1997 Nov;20(6):755-60. [PubMed:9427142 ]
Sealey WM, Teague AM, Stratton SL, Mock DM: Smoking accelerates biotin catabolism in women. Am J Clin Nutr. 2004 Oct;80(4):932-5. [PubMed:15447901 ]
Jakobs C, Sweetman L, Nyhan WL, Packman S: Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis. 1984;7(1):15-20. [PubMed:6429435 ]
Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U: Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Mol Genet Metab. 2003 Jul;79(3):160-6. [PubMed:12855220 ]
Rodriguez JM, Ruiz-Sala P, Ugarte M, Penalva MA: Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem. 2004 Feb 6;279(6):4578-87. Epub 2003 Nov 11. [PubMed:14612443 ]
Stratton SL, Bogusiewicz A, Mock MM, Mock NI, Wells AM, Mock DM: Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. Am J Clin Nutr. 2006 Aug;84(2):384-8. [PubMed:16895887 ]
Mock DM, Mock NI, Nelson RP, Lombard KA: Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapy. J Pediatr Gastroenterol Nutr. 1998 Mar;26(3):245-50. [PubMed:9523856 ]
Mock DM, Stratton SL, Horvath TD, Bogusiewicz A, Matthews NI, Henrich CL, Dawson AM, Spencer HJ, Owen SN, Boysen G, Moran JH: Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans. J Nutr. 2011 Nov;141(11):1925-30. doi: 10.3945/jn.111.146126. Epub 2011 Sep 14. [PubMed:21918059 ]
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 ]

Enzymes

Enzyme Details

1. UDP-glucuronosyltransferase 1-1

General function:: Involved in transferase activity, transferring hexosyl groups
Specific function:: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone.
Gene Name:: UGT1A1
Uniprot ID:: P22309
Molecular weight:: 59590.91

Reactions

3-Hydroxyisovaleric acid → 6-[(1-carboxy-2-methylpropan-2-yl)oxy]-3,4,5-trihydroxyoxane-2-carboxylic acid	details
3-Hydroxyisovaleric acid → 3,4,5-trihydroxy-6-[(3-hydroxy-3-methylbutanoyl)oxy]oxane-2-carboxylic acid	details

Showing metabocard for 3-Hydroxyisovaleric acid (HMDB0000754)

MOL for HMDB0000754 (3-Hydroxyisovaleric acid)

3D MOL for HMDB0000754 (3-Hydroxyisovaleric acid)

3D SDF for HMDB0000754 (3-Hydroxyisovaleric acid)

3D-SDF for HMDB0000754 (3-Hydroxyisovaleric acid)

PDB for HMDB0000754 (3-Hydroxyisovaleric acid)

3D PDB for HMDB0000754 (3-Hydroxyisovaleric acid)

SMILES for HMDB0000754 (3-Hydroxyisovaleric acid)

INCHI for HMDB0000754 (3-Hydroxyisovaleric acid)

Structure for HMDB0000754 (3-Hydroxyisovaleric acid)

3D Structure for HMDB0000754 (3-Hydroxyisovaleric acid)

Predicted Collision Cross Sections

Predicted Kovats Retention Indices

Underivatized

Derivatized

GC-MS Spectra

MS/MS Spectra

NMR Spectra

IR Spectra

Enzymes

Reactions