3-Hydroxyisovaleric acid

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3-Hydroxyisovaleric acid
2D structure for 3-Hydroxyisovaleric acid
Chemical Name	3-hydroxy-3-methyl-Butanoic acid
Chemical Formula	C₅H₁₀O₃
CAS Number	625-08-1
Chemical Information	HMDB00754
Biochemical Taxonomy	Hydroxy Acids
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Fibroblasts
Normal Biofluid Concentrations	Blood: 0 - 10 uM Cerebrospinal Fluid (CSF): 4.0 +/- 2.0 uM Urine: 12.2 (0.1-43.2) umol/mmol creatinine Urine: 26.9 (9.1-66.4) umol/mmol creatinine Urine: 7.5 (5.1-23.1) umol/mmol creatinine Urine: 9.0 (3.1-17.4) umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	3-methylglutaconic aciduria type I Lung Cancer
Other (Monogenic Disorders)	Biotinidase deficiency OMIM: 253260 Holocarboxylase synthetase deficiency OMIM: 253270
Abnormal Biofluid Concentrations	Blood (3-methylglutaconic aciduria type I): 10.0 (10.0 - 20.0) uM Urine (Lung Cancer): 6.0 +/- 2.0 umol/mmol creatinine
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
3-Hydroxyisovaleric acid is a normal human metabolite excreted in the urine. Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. 3-Hydroxyisovaleric acid is also elevated in smokers, in subjects undergoing long-term anticonvulsant therapy with carbamazepine and/or phenytoin. These levels are elevated due to impairment of renal reclamation of biotin. Levels may also be increased from prolonged consumption of raw egg-whites (PMID: 16895887, 9523856, 15447901, 9176832)(OMIM: 210210, 253270, 600529, 253260, 246450, 210200, 238331)