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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, PMID: 9523856, PMID: 15447901, PMID: 9176832, [OMIM: 210210], [OMIM: 253270], [OMIM: 600529], [OMIM: 253260], [OMIM: 246450], [OMIM: 210200], [OMIM: 238331] Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, Human Metabolome Database

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Tag Language Translation
zh-CN Chinese (China) 3-羟基异戊酸
Synonyms: 3-HIA;3OH-异戊酸;3-羟基-异戊酸
fr-CA French (Canada) 3-hydroxyisovalérate
et-EE Estonian (Estonia) 3-hüdroksüisovaleraat
es-ES Spanish (Spain) 3-Hidroxiisovalerato
it-IT Italian (Italy) 3-Idrossiisovalerato
tr-TR Turkish (Turkey) 3-Hidroksiizovalerat
ru-RU Russian (Russian Federation) 3-Гидроксиизовалерат
nl-NL Dutch (Netherlands) 3-hydroxyisovaleraat
fr-BE French (Belgium) 3-hydroxyisovalérate