(S)-3-Hydroxyisobutyric acid

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(S)-3-Hydroxyisobutyric acid
2D structure for (S)-3-Hydroxyisobutyric acid
Chemical Name	3-hydroxy-2-methylpropanoic acid
Chemical Formula	C₄H₈O₃
CAS Number	2068-83-9
Chemical Information	HMDB00023
Biochemical Taxonomy	Hydroxy Acids
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Valine, Leucine and Isoleucine Degradation
Biofluid Location	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Not Available
Normal Biofluid Concentrations	Blood: 20.0 (4.0-48.0) uM Cerebrospinal Fluid (CSF): 18.0 +/- 18.0 (0 - 36) uM Urine: 14.5 (5.5-28.7) umol/mmol creatinine Urine: 7.8 (3.8-25.1) umol/mmol creatinine Urine: 8.5 (4.9-17.1) umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Not Available
Other (Monogenic Disorders)	Methacrylic aciduria OMIM: 250620
Abnormal Biofluid Concentrations	Not Available
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
(S)-3-Hydroxyisobutyric (3-HIBA) acid is an organic acid. 3-HIBA is an intermediate in the metabolic pathways of L-valine and L-thymine amino acids. 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. The deficient enzyme in 3HiB-uria remains unclear. 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: 113770040, 10686279)