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Record Information

Version

5.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2023-02-21 17:14:43 UTC

HMDB ID

HMDB0000339

Secondary Accession Numbers

HMDB00339

Metabolite Identification

Common Name

2-Methylbutyrylglycine

Description

2-Methylbutyrylglycine is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism, such as propionic acidemia. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Acyl glycines are produced through the action of glycine N-acyltransferase (EC 2.3.1.13) which is an enzyme that catalyzes the chemical reaction: acyl-CoA + glycine < -- > CoA + N-acylglycine. The isolated excretion of high levels of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency or SBCADD (PMID:15615815 ). The disorder is also called 2-methylbutyryl-CoA dehydrogenase deficiency (PMID: 17883863 ) and has been associated with autism and mental retardation. SBCADD is a recently described autosomal recessive disorder caused by a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. The enzymatic defect results from disruption of the SBCAD gene. Deficiency of SBCAD leads to accumulation of its substrate, 2-methylbutyryl-CoA within the mitochondrion. This substance is transesterified with glycine by the mitochondrial enzyme acyl-CoA glycine-N-acyltransferase (glycine-N-acylase) to form 2-methylbutyryl glycine. Affected patients can be divided into two categories. The first category consists of infants detected by newborn screening programmes. These infants are treated with diet and remain without clinical symptoms. In the second category affected patients are diagnosed because they presented clinically with seizures and psychomotor delay and have increased urinary excretion of 2-methylbutyryl glycine (PMID: 17883863 ). 2-methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. (PMID: 630060 ). 2-methylbutyrylglycine is also elevated in the urine of patients with glutaric aciduria II and ethylmalonic encephalopathy.

Structure

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

View in JSmol View NMR Assignments View Stereo Labels

Synonyms

Value	Source
alpha-Methylbutyrylglycine	ChEBI
a-Methylbutyrylglycine	Generator
Α-methylbutyrylglycine	Generator
(2-Methyl-butyrylamino)-acetate	HMDB
(2-Methyl-butyrylamino)-acetic acid	HMDB
2-MBG	HMDB
2-Methylbutyryl glycine	HMDB
N-(2-Methylbutyryl)glycine	HMDB
N-Sec-valerylglycine	HMDB
2-Methylbutyrylglycine	ChEBI

Chemical Formula

C₇H₁₃NO₃

Average Molecular Weight

159.183

Monoisotopic Molecular Weight

159.089543287

IUPAC Name

2-(2-methylbutanamido)acetic acid

Traditional Name

2-methylbutyrylglycine

CAS Registry Number

52320-67-9

SMILES

CCC(C)C(=O)NCC(O)=O

InChI Identifier

InChI=1S/C7H13NO3/c1-3-5(2)7(11)8-4-6(9)10/h5H,3-4H2,1-2H3,(H,8,11)(H,9,10)

InChI Key

HOACIBQKYRHBOW-UHFFFAOYSA-N

Chemical Taxonomy

Description

Belongs to the class of organic compounds known as n-acyl-alpha amino acids. N-acyl-alpha amino acids are compounds containing an alpha amino acid which bears an acyl group at its terminal nitrogen atom.

Kingdom

Organic compounds

Super Class

Organic acids and derivatives

Class

Carboxylic acids and derivatives

Sub Class

Amino acids, peptides, and analogues

Direct Parent

N-acyl-alpha amino acids

Alternative Parents

Substituents

N-acyl-alpha-amino acid
Carboximidic acid
Carboximidic acid derivative
Carboxylic acid
Monocarboxylic acid or derivatives
Organic 1,3-dipolar compound
Propargyl-type 1,3-dipolar organic compound
Carbonyl group
Organooxygen compound
Organonitrogen compound
Hydrocarbon derivative
Organic oxide
Organopnictogen compound
Organic oxygen compound
Organic nitrogen compound
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

N-acylglycine (CHEBI:86366 )

Ontology

Physiological effect

Health effect

Genetic disorder

Nontypified gene mutation

Organic acidemia

Glutaric aciduria type 2 (HMDB: HMDB0000339)

Disposition

Biological location

Non-excretory biofluid

Biofluid or Excreta

Blood (PMID: 32966057)

Excreta

Biofluid or Excreta

Urine (PMID: 21389975)

Cellular substructure

Cytoplasm (HMDB: HMDB0000339)
Extracellular (HMDB: HMDB0000339)

Source

Endogenous

Endogenous (HMDB: HMDB0000339)

Pheasant (FooDB: FOOD00430)
Squab (FooDB: FOOD00481)
Turkey (FooDB: FOOD00494)
Quail (FooDB: FOOD00541)
Anatidae (FooDB: FOOD00576)
Rock ptarmigan (FooDB: FOOD00597)
Columbidae (Dove, Pigeon) (FooDB: FOOD00610)
Chicken (FooDB: FOOD00329)
Mallard duck (FooDB: FOOD00353)
Emu (FooDB: FOOD00360)
Greylag goose (FooDB: FOOD00368)
Guinea hen (FooDB: FOOD00373)
Ostrich (FooDB: FOOD00422)
Velvet duck (FooDB: FOOD00427)

Lagomorph

Ovis

Sheep (Mutton, Lamb) (FooDB: FOOD00473)

Bovine

Venison

Deer (FooDB: FOOD00524)
Mule deer (FooDB: FOOD00348)
Elk (FooDB: FOOD00359)

Caprae

Domestic goat (FooDB: FOOD00529)

Swine

Domestic pig (FooDB: FOOD00536)
Wild boar (FooDB: FOOD00307)

Equine

Horse (FooDB: FOOD00378)

Process

Naturally occurring process

Biological process

Biochemical pathway

Disease pathway

Ethylmalonic Encephalopathy (HMDB: HMDB0000339)
Ethylmalonic Encephalopathy (HMDB: HMDB0000339)

Role

Industrial application

Pharmaceutical industry

Biomarker

2 Methylbutyryl Co A Dehydrogenase Deficiency (MarkerDB: MDB00000148)
Glutaric Acidemia Type 2 (MarkerDB: MDB00000148)

Physical Properties

State

Solid

Experimental Molecular Properties

Property	Value	Reference
Melting Point	Not Available	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	Not Available	Not Available
LogP	Not Available	Not Available

Experimental Chromatographic Properties

Not Available

Predicted Molecular Properties

Property	Value	Source
Water Solubility	9 g/L	ALOGPS
logP	0.41	ALOGPS
logP	0.36	ChemAxon
logS	-1.2	ALOGPS
pKa (Strongest Acidic)	4.17	ChemAxon
pKa (Strongest Basic)	-1.6	ChemAxon
Physiological Charge	-1	ChemAxon
Hydrogen Acceptor Count	3	ChemAxon
Hydrogen Donor Count	2	ChemAxon
Polar Surface Area	66.4 Å²	ChemAxon
Rotatable Bond Count	4	ChemAxon
Refractivity	39.25 m³·mol⁻¹	ChemAxon
Polarizability	16.55 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]+	135.67	31661259
DarkChem	[M-H]-	132.173	31661259
AllCCS	[M+H]+	136.865	32859911
AllCCS	[M-H]-	135.135	32859911
DeepCCS	[M+H]+	135.61	30932474
DeepCCS	[M-H]-	131.896	30932474
DeepCCS	[M-2H]-	168.914	30932474
DeepCCS	[M+Na]+	144.342	30932474
AllCCS	[M+H]+	136.9	32859911
AllCCS	[M+H-H2O]+	133.0	32859911
AllCCS	[M+NH4]+	140.5	32859911
AllCCS	[M+Na]+	141.5	32859911
AllCCS	[M-H]-	135.1	32859911
AllCCS	[M+Na-2H]-	137.2	32859911
AllCCS	[M+HCOO]-	139.4	32859911

Predicted Kovats Retention Indices

Underivatized

Metabolite	SMILES	Kovats RI Value	Column Type	Reference
2-Methylbutyrylglycine	CCC(C)C(=O)NCC(O)=O	2378.7	Standard polar	33892256
2-Methylbutyrylglycine	CCC(C)C(=O)NCC(O)=O	1351.6	Standard non polar	33892256
2-Methylbutyrylglycine	CCC(C)C(=O)NCC(O)=O	1450.0	Semi standard non polar	33892256

Derivatized

Derivative Name / Structure	SMILES	Kovats RI Value	Column Type	Reference
2-Methylbutyrylglycine,1TMS,isomer #1	CCC(C)C(=O)NCC(=O)O[Si](C)(C)C	1465.5	Semi standard non polar	33892256
2-Methylbutyrylglycine,1TMS,isomer #2	CCC(C)C(=O)N(CC(=O)O)[Si](C)(C)C	1470.7	Semi standard non polar	33892256
2-Methylbutyrylglycine,2TMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C)[Si](C)(C)C	1508.4	Semi standard non polar	33892256
2-Methylbutyrylglycine,2TMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C)[Si](C)(C)C	1475.1	Standard non polar	33892256
2-Methylbutyrylglycine,2TMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C)[Si](C)(C)C	1616.3	Standard polar	33892256
2-Methylbutyrylglycine,1TBDMS,isomer #1	CCC(C)C(=O)NCC(=O)O[Si](C)(C)C(C)(C)C	1706.5	Semi standard non polar	33892256
2-Methylbutyrylglycine,1TBDMS,isomer #2	CCC(C)C(=O)N(CC(=O)O)[Si](C)(C)C(C)(C)C	1711.9	Semi standard non polar	33892256
2-Methylbutyrylglycine,2TBDMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1967.5	Semi standard non polar	33892256
2-Methylbutyrylglycine,2TBDMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1901.4	Standard non polar	33892256
2-Methylbutyrylglycine,2TBDMS,isomer #1	CCC(C)C(=O)N(CC(=O)O[Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1904.6	Standard polar	33892256

Spectra

GC-MS Spectra

Spectrum Type	Description	Splash Key	Deposition Date	Source	View
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (Non-derivatized) - 70eV, Positive	splash10-0a4r-9200000000-037c365f69a94a2795e3	2017-09-01	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (1 TMS) - 70eV, Positive	splash10-00di-9100000000-e433d3dc8126ab0a8a11	2017-10-06	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (Non-derivatized) - 70eV, Positive	Not Available	2021-10-12	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (Non-derivatized) - 70eV, Positive	Not Available	2021-10-12	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (TMS_1_2) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (TBDMS_1_1) - 70eV, Positive	Not Available	2021-11-05	Wishart Lab	View Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - 2-Methylbutyrylglycine GC-MS (TBDMS_1_2) - 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 - 2-Methylbutyrylglycine Quattro_QQQ 10V, Positive-QTOF (Annotated)	splash10-0a70-9000000000-677b36115959d21d1f09	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine Quattro_QQQ 25V, Positive-QTOF (Annotated)	splash10-0a4i-9000000000-8acb9e6da8ae025a1f8d	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine Quattro_QQQ 40V, Positive-QTOF (Annotated)	splash10-0a4l-9000000000-e9d59f38263024d831c0	2012-07-24	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Positive-QTOF	splash10-0a4i-9000000000-5b8594d1ae20d3cefd30	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Negative-QTOF	splash10-00di-9100000000-5616d01ed9501db46e06	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Positive-QTOF	splash10-052f-9000000000-dc3a1247ae093f314b43	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Positive-QTOF	splash10-0a4i-9000000000-3dfb1ee5e780367552f0	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Negative-QTOF	splash10-05fr-8900000000-1ee8e7b73ae88fd1ef8f	2021-09-20	HMDB team, MONA	View Spectrum
Experimental LC-MS/MS	LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Negative-QTOF	splash10-00di-9000000000-d2b9a5139d838d79d4cc	2021-09-20	HMDB team, MONA	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Positive-QTOF	splash10-03dr-5900000000-0b42996566d3baf8c66b	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Positive-QTOF	splash10-06ri-9400000000-711387fe57829069d6f3	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Positive-QTOF	splash10-0a4i-9000000000-6fc57261ee60bbc3af11	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Negative-QTOF	splash10-0a4i-0900000000-1fa66530dedcfabf00e7	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Negative-QTOF	splash10-0a4i-2900000000-975416bc76e2d0f660c1	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Negative-QTOF	splash10-0ab9-9000000000-d1bb15a1be690ed64b19	2017-09-01	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Positive-QTOF	splash10-0bt9-9400000000-c1ffbc1b6124d8ccd7f3	2021-09-23	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Positive-QTOF	splash10-0a4i-9000000000-d49a18704d3772cb3e92	2021-09-23	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Positive-QTOF	splash10-0a4i-9000000000-5f02bb141e31e9a67e6a	2021-09-23	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 10V, Negative-QTOF	splash10-0006-1900000000-7a07dd16a49c33b82c5c	2021-09-25	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 20V, Negative-QTOF	splash10-05fu-9600000000-2a213e61a98edbd8d71a	2021-09-25	Wishart Lab	View Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 2-Methylbutyrylglycine 40V, Negative-QTOF	splash10-05fu-9000000000-8a65567da0b6dd8bfb83	2021-09-25	Wishart Lab	View Spectrum

NMR Spectra

Spectrum Type	Description	Deposition Date	Source	View
Experimental 1D NMR	¹H NMR Spectrum (1D, 500 MHz, CDCl₃, experimental)	2012-12-04	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 100 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 100 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 1000 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 1000 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 200 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 200 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 300 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 300 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 400 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 400 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 500 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 500 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 600 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 600 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 700 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 700 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 800 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 800 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹³C NMR Spectrum (1D, 900 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Predicted 1D NMR	¹H NMR Spectrum (1D, 900 MHz, D₂O, predicted)	2021-09-29	Wishart Lab	View Spectrum
Experimental 2D NMR	[¹H, ¹³C]-HSQC NMR Spectrum (2D, 600 MHz, CD₃OD, 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

Biospecimen Locations

Blood
Urine

Tissue Locations

Not Available

Pathways

Not Available

Name	SMPDB/PathBank	KEGG

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	32966057	details
Urine	Detected and Quantified	0.0348–0.3643 umol/mmol creatinine	Adult (25-30 years old)	Both	Not Available	23062437	details
Urine	Detected and Quantified	0.0640–0.2252 umol/mmol creatinine	Adult (25-30 years old)	Both	Not Available	23062437	details
Urine	Detected and Quantified	<0.57 umol/mmol creatinine	Adult (>18 years old)	Both	Normal	28853722	details
Urine	Detected and Quantified	0.2 - 4.5 umol/mmol creatinine	Adolescent (13-18 years old)	Both	Normal	7609451	details
Urine	Detected but not Quantified	Not Quantified	Adult (24-38years old)	Not Specified	Normal	20971021	details
Urine	Detected and Quantified	0.25 (0-1.92) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	21704015	details
Urine	Detected and Quantified	0.3-7.5 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	12837870	details
Urine	Detected and Quantified	0.213-5.327 umol/mmol creatinine	Not Specified	Not Specified	Normal	12837870	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21389975	details
Urine	Detected and Quantified	<5 umol/mmol creatinine	Newborn (0-30 days old)	Not Specified	Normal	15615815	details
Urine	Detected and Quantified	2.0 (1.2-3.3) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	0.0545–0.2619 umol/mmol creatinine	Adult (25-30 years old)	Both	Not Available	23062437	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Urine	Detected and Quantified	5.682-21.308 umol/mmol creatinine	Newborn (0-30 days old)	Male	2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)	10832746	details
Urine	Detected and Quantified	0.73 umol/mmol creatinine	Adult (>18 years old)	Not Specified	Propionic acidemia	28853722	details
Urine	Detected and Quantified	8.523-22.728 umol/mmol creatinine	Newborn (0-30 days old)	Not Specified	Glutaric Aciduria II	6158623	details
Urine	Detected but not Quantified	Not Quantified	Children (1-13 years old)	Both	Short/branched-chain acyl-CoA dehydrogenase deficiency	17883863	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	0.497-73.227 umol/mmol creatinine	Infant (0-1 year old)	Not Specified	2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)	12837870	details
Urine	Detected and Quantified	0.284 umol/mmol creatinine	Not Specified	Not Specified	Isovaleric acidemia	12837870	details
Urine	Detected and Quantified	14.5-36.7 umol/mmol creatinine	Newborn (0-30 days old)	Not Specified	Isovaleric acidemia	15615815	details
Urine	Detected and Quantified	2-47.200 umol/mmol creatinine	Children (1-13 years old)	Both	2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)	17945527	details

Associated Disorders and Diseases

Disease References

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 ]
Short/branched chain acyl-CoA dehydrogenase deficiency
Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P: 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. J Med Case Rep. 2007 Sep 20;1:98. [PubMed:17883863 ] Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun;47(6):830-3. [PubMed:10832746 ] Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. [PubMed:12837870 ] Sass JO, Ensenauer R, Roschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Haberle J, Andresen BS, Megarbane A, Lehnert W, Zschocke J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. [PubMed:17945527 ]
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 ]
Glutaric aciduria II
Gregersen N, Kolvraa S, Rasmussen K, Christensen E, Brandt NJ, Ebbesen F, Hansen FH: Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. J Inherit Metab Dis. 1980;3(3):67-72. [PubMed:6158623 ] G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Isovaleric acidemia
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. [PubMed:12837870 ] Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt JJ: 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin Chem. 2005 Mar;51(3):610-7. Epub 2004 Dec 22. [PubMed:15615815 ]

Associated OMIM IDs

601313 (Autosomal dominant polycystic kidney disease)
610006 (Short/branched chain acyl-CoA dehydrogenase deficiency)
606054 (Propionic acidemia)
231680 (Glutaric aciduria II)
243500 (Isovaleric acidemia)

External Links

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FooDB ID

FDB021963

KNApSAcK ID

Not Available

Chemspider ID

168243

KEGG Compound ID

Not Available

BioCyc ID

Not Available

BiGG ID

Not Available

Wikipedia Link

Not Available

METLIN ID

5328

PubChem Compound

193872

PDB ID

Not Available

ChEBI ID

86366

Food Biomarker Ontology

Not Available

VMH ID

CE4970

MarkerDB ID

MDB00000148

Good Scents ID

Not Available

References

Synthesis Reference

Korman, Stanley H.; Andresen, Brage S.; Zeharia, Avraham; Gutman, Alisa; Boneh, Avihu; Pitt, James J. 2-Ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clinical Chemistry (Washington, DC, United States) (2005), 51(3), 610-617.

Material Safety Data Sheet (MSDS)

Not Available

General References

Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt JJ: 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin Chem. 2005 Mar;51(3):610-7. Epub 2004 Dec 22. [PubMed:15615815 ]
Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J: Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology. 1999 Jan 15;52(2):366-72. [PubMed:9932958 ]
Sweetman L, Weyler W, Nyhan WL, de Cespedes C, Loria AR, Estrada Y: Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomed Mass Spectrom. 1978 Mar;5(3):198-207. [PubMed:630060 ]
Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P: 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. J Med Case Rep. 2007 Sep 20;1:98. [PubMed:17883863 ]

Enzymes

Enzyme Details

1. Glycine N-acyltransferase

General function:: Involved in glycine N-acyltransferase activity
Specific function:: Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid.
Gene Name:: GLYAT
Uniprot ID:: Q6IB77
Molecular weight:: 18506.33

Enzyme Details

2. Glycine N-acyltransferase-like protein 1

General function:: Involved in glycine N-acyltransferase activity
Specific function:: Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor.
Gene Name:: GLYATL1
Uniprot ID:: Q969I3
Molecular weight:: 35100.895

Enzyme Details

3. Glycine N-acyltransferase-like protein 2

General function:: Involved in glycine N-acyltransferase activity
Specific function:: Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine.
Gene Name:: GLYATL2
Uniprot ID:: Q8WU03
Molecular weight:: 34277.055

Enzyme Details

4. Glycine N-acyltransferase-like protein 3

General function:: Involved in glycine N-acyltransferase activity
Specific function:: Acyltransferase which transfers the acyl group to the N- terminus of glycine
Gene Name:: GLYATL3
Uniprot ID:: Q5SZD4
Molecular weight:: 32703.3

Showing metabocard for 2-Methylbutyrylglycine (HMDB0000339)

MOL for HMDB0000339 (2-Methylbutyrylglycine)

3D MOL for HMDB0000339 (2-Methylbutyrylglycine)

3D SDF for HMDB0000339 (2-Methylbutyrylglycine)

3D-SDF for HMDB0000339 (2-Methylbutyrylglycine)

PDB for HMDB0000339 (2-Methylbutyrylglycine)

3D PDB for HMDB0000339 (2-Methylbutyrylglycine)

SMILES for HMDB0000339 (2-Methylbutyrylglycine)

INCHI for HMDB0000339 (2-Methylbutyrylglycine)

Structure for HMDB0000339 (2-Methylbutyrylglycine)

3D Structure for HMDB0000339 (2-Methylbutyrylglycine)

Predicted Collision Cross Sections

Predicted Kovats Retention Indices

Underivatized

Derivatized

GC-MS Spectra

MS/MS Spectra

NMR Spectra

IR Spectra

Enzymes