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3-Hydroxyisovaleric acid
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)
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  1. 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
  2. GLUTARIC ACIDURIA II
  3. ISOVALERIC ACIDEMIA
  4. BETA-MANNOSIDOSIS
  5. 3-METHYLGLUTACONIC ACIDURIA (TYPE I)
  6. 3-METHYL-CROTONYL-GLYCINURIA
  7. BIOTINIDASE DEFICIENCY
  8. MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM
  9. KETOSIS, UNSPECIFIC [DD]
  10. FEEDING: AMINO ACID FORMULA [DD]
  11. 3-HYDROXYISOBUTYRIC ACIDURIA
  12. ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS [DD]
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52