MiMeDB: Showing metabocard for 2-Hydroxy-3-methylbutyric acid (MMDBc0000515)

Record Information

Version

1.0

Status

Detected and Quantified

Creation Date

2020-12-10 18:39:31 UTC

Update Date

2024-10-17 04:08:35 UTC

Metabolite ID

MMDBc0000515

Metabolite Identification

Common Name

2-Hydroxy-3-methylbutyric acid

Description

2-Hydroxy-3-methylbutyric acid (also known as 2-hydroxyisovaleric acid) is a metabolite found in the urine of patients with phenylketonuria (PMID: 7978272 ), methylmalonic acidemia, propionic acidemia, 3-ketothiolase deficiency, isovaleric acidemia, 3-methylcrotonylglycemia, 3-hydroxy-3-methylglutaric acidemia, multiple carboxylase deficiency, glutaric aciduria, ornithine transcarbamylase deficiency, glyceroluria, tyrosinemia type I, galactosemia, and maple syrup urine disease (PMID: 11048741 ). 2-Hydroxyisovaleric acid has also been identified in the urine of patients with lactic acidosis and ketoacidosis (PMID: 884872 ), and in the urine of severely asphyxiated babies (PMID: 1610944 ). 2-Hydroxyisovaleric acid originates mainly from ketogenesis and from the metabolism of valine, leucine, and isoleucine (PMID: 6434570 ). 2-Hydroxy-3-methylbutyric acid has been identified in the human placenta (PMID: 32033212 ).

Structure

MOL SDF PDB SMILES InChI

Synonyms

Value	Source
2-Hydroxyisopentanoic acid	ChEBI
2-Hydroxyisovaleric acid	ChEBI
3-Methyl-2-hydroxybutyric acid	ChEBI
alpha-Hydroxyisovaleric acid	ChEBI
2-Hydroxyisopentanoate	Generator
2-Hydroxyisovalerate	Generator
3-Methyl-2-hydroxybutyrate	Generator
a-Hydroxyisovalerate	Generator
a-Hydroxyisovaleric acid	Generator
alpha-Hydroxyisovalerate	Generator
Α-hydroxyisovalerate	Generator
Α-hydroxyisovaleric acid	Generator
2-Hydroxy-3-methylbutyrate	Generator
2-Hydroxy-3-methyl-butyric acid	HMDB
2-Hydroxy-3-methylbutanoate	HMDB
2-Hydroxy-3-methylbutanoic acid	HMDB
2-Oxyisovalerate	HMDB
2-Oxyisovaleric acid	HMDB
DL-2-Hydroxy-3-methylbutanoate	HMDB
DL-2-Hydroxy-3-methylbutanoic acid	HMDB
DL-2-Hydroxyisovalerate	HMDB
DL-2-Hydroxyisovaleric acid	HMDB
DL-a-Hydroxyisovalerate	HMDB
DL-a-Hydroxyisovaleric acid	HMDB
DL-alpha-Hydroxyisovalerate	HMDB
DL-alpha-Hydroxyisovaleric acid	HMDB
2-Hydroxyisovaleric acid, monosodium salt, (S)-isomer	HMDB
2-Hydroxyisovaleric acid, (S)-isomer	HMDB
2-Hydroxyisovaleric acid, calcium (2:1) salt	HMDB
2-Hydroxyisovaleric acid, (R)-isomer	HMDB

Molecular Formula

C₅H₁₀O₃

Average Mass

118.1311

Monoisotopic Mass

118.062994186

IUPAC Name

Not Available

Traditional Name

Not Available

CAS Registry Number

Not Available

SMILES

Not Available

InChI Identifier

InChI=1S/C5H10O3/c1-3(2)4(6)5(7)8/h3-4,6H,1-2H3,(H,7,8)

InChI Key

NGEWQZIDQIYUNV-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

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

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

2-hydroxy monocarboxylic acid (CHEBI:60645 )

Functional Ontology

Not Available

Physical Properties

State

Expected Solid

Predicted Properties

Not Available

Spectra

Not Available

Biological Properties

Cellular Locations

Cytoplasm
Extracellular
Membrane

Biospecimen Locations

Blood
Cerebrospinal Fluid (CSF)
Feces
Placenta
Saliva
Urine

Tissue Locations

Placenta

Associated OMIM IDs

114500 (Colorectal cancer)
610247 (Eosinophilic esophagitis)

Human Proteins and Enzymes

Protein ID	Protein Name	Protein Type	Uniprot ID	Species
MMDBp0192023	Sulfotransferase family cytosolic 2B member 1	Enzyme	O00204	Homo sapiens
MMDBp0192140	UDP-glucuronosyltransferase 1-1	Enzyme	P22309	Homo sapiens

Human Pathways

Pathways

Name	SMPDB/PathBank

Metabolic Reactions

Reactions

Reaction ID	Precursor	Product	Enzyme	Reaction Type	Data Source	Reference
MMDBr0008576	alpha-Ketoisovaleric acid	2-Hydroxy-3-methylbutyric acid	lactate dehydrogenase A		VMH	30371894

Health Effects and Bioactivity

Health Outcome/Bioactivity	Evidence Type	Host and Biospecimen	Data Source	Reference
Maple syrup urine disease	Association	Human Cerebrospinal Fluid (CSF)	HMDB	6422161
Maple syrup urine disease	Association	Human Blood	HMDB	6422161
Eosinophilic esophagitis	Association	Human Urine	HMDB	Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work)

Microbial Sources

Superkingdom/Kingdom	Phylum	Total species	Hosts and Body Sites	Microbial Links
Bacteria	Firmicutes	4	Human ; Human feces; Human stool	Indirect association between microbiota composition and metabolites measured in host biospecimen
Eukaryota/Fungi	Ascomycota	1	Human feces; Human saliva	Unknown

Exposure Sources

Source Type	Activity	Data Source	Reference
Cosmetics	Not Available	U.S. Environmental Protection Agency	CompTox
Domestics	Not Available	U.S. Environmental Protection Agency	CompTox

Host Biospecimen and Location

Host and Biospecimen	Status	Mean	Std	Min	Max	Units	Age	Sex	Health Condition	Data Source	Reference
Human Feces	Detected but not Quantified									HMDB
Human Urine	Detected and Quantified	407.016				umol/mmol creatinine	Infant (0-1 year old)	Male	Dihydrolipoamide Dehydrogenase Deficiency	HMDB	6688766
Human Cerebrospinal fluid (csf)	Detected and Quantified	809				uM	Newborn (0-30 days old)	Female	Maple syrup urine disease	HMDB	6422161
Human Blood	Detected and Quantified	1237				uM	Infant (0-1 year old)	Female	Maple syrup urine disease	HMDB	6422161
Human Blood	Detected and Quantified	4.1	2.8			uM	Adult (>18 years old)	Female	Pregnancy	HMDB	23313728
Human Urine	Detected and Quantified			0.21	0.48	umol/mmol creatinine	Adult (>18 years old)	Female	Normal	HMDB	27012787
Human Urine	Detected and Quantified			0.23	0.42	umol/mmol creatinine	Adult (>18 years old)	Male	Normal	HMDB	27012787
Human Blood	Detected and Quantified	13.7	6.3			uM	Newborn (0-30 days old)	Not Specified	Normal	HMDB	6422161
Human Cerebrospinal fluid (csf)	Detected and Quantified	6.6	2.3			uM	Newborn (0-30 days old)	Not Specified	Normal	HMDB	6422161
Human Cerebrospinal fluid (csf)	Detected and Quantified	6.8	6.8			uM	Adult (>18 years old)	Both	Normal	HMDB	8412012
Human Blood	Detected and Quantified	7.7		0.0	19.0	uM	Adult (>18 years old)	Both	Normal	HMDB	8412012
Human Cerebrospinal fluid (csf)	Detected and Quantified	8	6			uM	Adult (>18 years old)	Both	Normal	HMDB	18502700
Human Urine	Detected and Quantified	2.375	2.017			umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	HMDB	Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work)
Human Urine	Detected and Quantified	0				umol/mmol creatinine	Children (1 - 18 years old)	Both	Normal	HMDB	BC Children's Hospital Biochemical Genetics Lab
Human Urine	Detected and Quantified	2.0		0.0	4.5	umol/mmol creatinine	Infant (0-1 year old)	Both	Normal	HMDB	Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
Human Blood	Detected and Quantified	4.5		2.9	6.2	uM	Adult (>18 years old)	Both	Normal	HMDB	Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
Human Saliva	Detected and Quantified	3.13	0.24			uM	Adult (>18 years old)	Both	Normal	HMDB	https://doi.org/10.1007/s11306-015-0840-5
Human Placenta	Detected but not Quantified						Not Specified	Not Specified	Normal	HMDB	34986597
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Saliva	Detected but not Quantified						Adult (>18 years old)	Male	Normal	HMDB	22308371
Human Feces	Detected but not Quantified						Adult (>18 years old)	Both	Normal	HMDB	18052033
Human Blood	Detected but not Quantified						Adult (>18 years old)	Female	Normal	HMDB	27355821
Human Feces	Detected but not Quantified						Adult (>18 years old)	Both	Normal	HMDB	27543620
Human Feces	Detected but not Quantified						Adult (>18 years old)	Both	Normal	HMDB	25037050
Human Feces	Detected but not Quantified						Adult (>18 years old)	Both	Normal	HMDB	29808030

External Links

HMDB ID

HMDB0000407

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FooDB ID

FDB022023

KNApSAcK ID

Not Available

Chemspider ID

90190

KEGG Compound ID

Not Available

BioCyc ID

Not Available

BiGG ID

Not Available

Wikipedia Link

Not Available

METLIN ID

5396

PubChem Compound

99823

PDB ID

Not Available

ChEBI ID

60645

Food Biomarker Ontology

Not Available

References

Synthesis Reference

Not Available

General References

Landaas S, Jakobs C: The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis. Clin Chim Acta. 1977 Aug 1;78(3):489-93. doi: 10.1016/0009-8981(77)90082-1. [PubMed:884872 ]
Walker V, Mills GA: Effects of birth asphyxia on urinary organic acid excretion. Biol Neonate. 1992;61(3):162-72. doi: 10.1159/000243739. [PubMed:1610944 ]
Liebich HM, Forst C: Hydroxycarboxylic and oxocarboxylic acids in urine: products from branched-chain amino acid degradation and from ketogenesis. J Chromatogr. 1984 Aug 10;309(2):225-42. doi: 10.1016/0378-4347(84)80031-6. [PubMed:6434570 ]
Bergstrom T, Greter J, Levin AH, Steen G, Tryding N, Wass U: Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine. Scand J Clin Lab Invest. 1981 Apr;41(2):117-26. doi: 10.3109/00365518109092023. [PubMed:7313494 ]
Magni F, Arnoldi L, Galati G, Galli Kienle M: Simultaneous determination of plasma levels of alpha-ketoisocaproic acid and leucine and evaluation of alpha-[1-13C]ketoisocaproic acid and [1-13C]leucine enrichment by gas chromatography-mass spectrometry. Anal Biochem. 1994 Aug 1;220(2):308-14. doi: 10.1006/abio.1994.1342. [PubMed:7978272 ]
Ohie T, Fu X, Iga M, Kimura M, Yamaguchi S: Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivation: use of the simplified sample preparations and the automated data system to screen for organic acidemias. J Chromatogr B Biomed Sci Appl. 2000 Sep 1;746(1):63-73. doi: 10.1016/s0378-4347(00)00105-5. [PubMed:11048741 ]
Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9. doi: 10.1038/35036052. [PubMed:11413487 ]
Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. doi: 10.1194/jlr.R600022-JLR200. Epub 2006 Aug 10. [PubMed:16902246 ]
Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. doi: 10.1194/jlr.R700005-JLR200. Epub 2007 Mar 20. [PubMed:17374880 ]
Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621. [PubMed:20044567 ]
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 ]
Gunstone, Frank D., John L. Harwood, and Albert J. Dijkstra (2007). The lipid handbook with CD-ROM. CRC Press.

Showing metabocard for 2-Hydroxy-3-methylbutyric acid (MMDBc0000515)

MOL for #<Metabolite:0x00007fdb50bbd8b0>

3D MOL for #<Metabolite:0x00007fdb50bbd8b0>

3D SDF for #<Metabolite:0x00007fdb50bbd8b0>

3D-SDF for #<Metabolite:0x00007fdb50bbd8b0>

PDB for #<Metabolite:0x00007fdb50bbd8b0>

3D PDB for #<Metabolite:0x00007fdb50bbd8b0>

SMILES for #<Metabolite:0x00007fdb50bbd8b0>

INCHI for #<Metabolite:0x00007fdb50bbd8b0>

Structure for #<Metabolite:0x00007fdb50bbd8b0>

3D Structure for #<Metabolite:0x00007fdb50bbd8b0>