Showing chemical card for (S)-3-Hydroxyisobutyric acid (CFc000000009)
Record Information
Version
1.0
Creation Date
2022-08-28 10:25:12 UTC
Update Date
2022-09-13 18:35:03 UTC
Chemfont ID
CFc000000009
Molecule Identification
Common Name
(S)-3-Hydroxyisobutyric acid
Definition
(S)-3-Hydroxyisobutyric acid (3-HIBA) (CAS: 2068-83-9) is an organic acid. 3-HIBA is an intermediate in L-valine metabolism. 3-HIBA plays an important role in the diagnosis of the very rare inherited metabolic diseases 3-hydroxyisobutyric aciduria (OMIM: 236795 ) and methylmalonic semialdehyde dehydrogenase deficiency (OMIM: 603178 ). Patients with 3-hydroxyisobutyric aciduria excrete a significant amount of 3-HIBA not only during the acute stage but also when stable. 3-Hydroxyisobutyric aciduria is caused by a 3-hydroxyisobutyryl-CoA dehydrogenase deficiency (PMID: 18329219 ). The severity of this disease varies from case to case. Most patients exhibit dysmorphic features, such as a small triangular face, a long philtrum, low set ears, and micrognathia (PMID: 10686279 ). Lactic acidemia is also found in the affected patients, indicating that mitochondrial dysfunction is involved. 3-HIBA appears to specifically inhibit the function of the respiratory chain complex I-III and mitochondrial creatine kinase (PMID: 18329219 ). BioTransformer predicts that 3-HIBA is a product of 2-methylpropanoic acid metabolism via a hydroxylation-of-terminal-methyl reaction catalyzed by CYP2B6 and CYP2E1 enzymes (PMID: 30612223 ).
Belongs to the class of organic compounds known as beta hydroxy acids and derivatives. Beta hydroxy acids and derivatives are compounds containing a carboxylic acid substituted with a hydroxyl group on the C3 carbon atom.
