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

2022-08-31 06:07:54 UTC

MiMeDB 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

Not Available

Chemical Formula

C₅H₁₀O₃

Average Molecular Weight

118.1311

Monoisotopic Molecular Weight

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

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

Proteins

#<MetaboliteProteinLink:0x000055b76a785e70>

Human Pathways

Pathways

Name	SMPDB/PathBank

Metabolic Reactions

Reaction ID	Precursor	Product	Enzyme	Reaction Type	Data Source	Reference

Health Effects and Bioactivity

Health Outcome/Bioactivity	Related Health Condition	Evidence Type	Measured in Matrix	Reference
Maple syrup urine disease	This associated disease is originally imported from HMDB metabolite HMDB0000407 concentration id 135977	Association	Human Cerebrospinal Fluid (CSF)	6422161	details
Maple syrup urine disease	This associated disease is originally imported from HMDB metabolite HMDB0000407 concentration id 135697	Association	Human Blood	6422161	details
Eosinophilic esophagitis	This associated disease is originally imported from HMDB metabolite HMDB0000407 concentration id 98103	Association	Human Urine	Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work)	details

Microbial Sources

Kingdom	Phylum	Total species	Hosts and Body Sites	Microbial Links
	Firmicutes	4		Indirect association between microbiota composition and metabolites measured in host biospecimen
Fungi	Ascomycota	1	Human Feces	Unknown

Exposure Sources

Source Type	Source Sub-type	Species	Data Source	Reference	Details

Host Biospecimen and Location

Host and Biospecimen	Status	Mean	Std	Min	Max	Age	Sex	Health Condition	Data Source	Reference
Human Feces	Detected but not Quantified								HMDB		details
Human	Detected and Quantified	407.016				Infant (0-1 year old)	Male	Dihydrolipoamide Dehydrogenase Deficiency	HMDB	6688766	details
Human	Detected and Quantified	809				Newborn (0-30 days old)	Female	Maple syrup urine disease	HMDB	6422161	details
Human	Detected and Quantified	1237				Infant (0-1 year old)	Female	Maple syrup urine disease	HMDB	6422161	details
Human	Detected and Quantified	4.1	2.8			Adult (>18 years old)	Female	Pregnancy	HMDB	23313728	details
Human	Detected and Quantified			0.21	0.48	Adult (>18 years old)	Female	Normal	HMDB	27012787	details
Human	Detected and Quantified			0.23	0.42	Adult (>18 years old)	Male	Normal	HMDB	27012787	details
Human	Detected and Quantified	13.7	6.3			Newborn (0-30 days old)	Not Specified	Normal	HMDB	6422161	details
Human	Detected and Quantified	6.6	2.3			Newborn (0-30 days old)	Not Specified	Normal	HMDB	6422161	details
Human	Detected and Quantified	6.8	6.8			Adult (>18 years old)	Both	Normal	HMDB	8412012	details
Human	Detected and Quantified	7.7		0.0	19.0	Adult (>18 years old)	Both	Normal	HMDB	8412012	details
Human	Detected and Quantified	8	6			Adult (>18 years old)	Both	Normal	HMDB	18502700	details
Human	Detected and Quantified	2.375	2.017			Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	HMDB	Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work)	details
Human	Detected and Quantified	0				Children (1 - 18 years old)	Both	Normal	HMDB	BC Children's Hospital Biochemical Genetics Lab	details
Human	Detected and Quantified	2.0		0.0	4.5	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.	details
Human	Detected and Quantified	4.5		2.9	6.2	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.	details
Human	Detected and Quantified	3.13	0.24			Adult (>18 years old)	Both	Normal	HMDB	Zerihun T. Dame, Farid Aziat, Rupasri Mandal, Ram Krishnamurthy, Souhaila Bouatra, Shima Borzouie, An Chi Guo, Tanvir Sajed, Lu Deng, Hong Lin, Philip Liu, Edison Dong, David S. Wishart "The human saliva metabolome" Metabolomics (2015) DOI 10.1007/s11306-015-0840-5	details
Human Placenta	Detected but not Quantified					Not Specified	Not Specified	Normal	HMDB	34986597	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Saliva	Detected but not Quantified					Adult (>18 years old)	Male	Normal	HMDB	22308371	details
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	18052033	details
Human Blood	Detected but not Quantified					Adult (>18 years old)	Female	Normal	HMDB	27355821	details
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	27543620	details
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	25037050	details
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	29808030	details

External Links

HMDB ID

Not Available

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FooDB ID

Not Available

KNApSAcK ID

Not Available

Chemspider ID

Not Available

KEGG Compound ID

Not Available

BioCyc ID

Not Available

BiGG ID

Not Available

Wikipedia Link

Not Available

METLIN ID

Not Available

PubChem Compound

Not Available

PDB ID

Not Available

ChEBI ID

Not Available

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:0x000055b76dc87740>

3D MOL for #<Metabolite:0x000055b76dc87740>

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3D-SDF for #<Metabolite:0x000055b76dc87740>

PDB for #<Metabolite:0x000055b76dc87740>

3D PDB for #<Metabolite:0x000055b76dc87740>

SMILES for #<Metabolite:0x000055b76dc87740>

INCHI for #<Metabolite:0x000055b76dc87740>

Structure for #<Metabolite:0x000055b76dc87740>

3D Structure for #<Metabolite:0x000055b76dc87740>