isovalericacidemia

isovalericacidemia
iso·va·ler·ic·ac·i·de·mia (i″so-və-ler″ik-as″ĭ-deґme-ə) an autosomal recessive aminoacidopathy caused by mutation in the IVD gene (locus: 15q14-q15), which encodes isovaleryl-CoA dehydrogenase; the resulting enzyme deficiency leads to elevated plasma levels of isovaleric acid and urinary levels of isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet. Clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia. Two clinical forms exist: the acute neonatal form leads rapidly to coma and death; the chronic intermittent form is milder and usually of later onset, with acute episodic attacks and variable psychomotor dysfunction.

Medical dictionary. 2011.

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  • acidemia — An increase in the H ion concentration of the blood or a fall below normal in pH. Individual types of a. are listed by specific name, e.g., isovalericacidemia, aminoacidemia, etc. [acid + G. haima, blood] * * * ac·i·de·mia or chiefly Brit… …   Medical dictionary

  • Isovaleric acidemia — DiseaseDisorder infobox Name = Isovaleric acidemia ICD10 = ICD10|E|71|1|e|70 ICD9 = ICD9|270.3 ICDO = Caption = Isovaleric acid Width = 135 OMIM = 243500 MedlinePlus = eMedicineSubj = eMedicineTopic = DiseasesDB = 29840 Isovaleric acidemia, also… …   Wikipedia

  • isovaleric acid — 3 Methylbutyric acid; a metabolic intermediate in oxidative processes; elevated in cases of isovaleric acidemia. * * * iso·va·ler·ic acid .ī sō və .lir ik , .ler n a liquid acid C5H10O2 that has a disagreeable odor, that occurs esp. in valerian… …   Medical dictionary

  • isovaleryl-CoA dehydrogenase — iso·val·er·yl CoA de·hy·dro·gen·ase (i″so və lerґəl ko aґ de hiґdro jən ās) [EC 1.3.99.10] an enzyme of the oxidoreductase class that catalyzes the dehydrogenation of isovaleryl CoA to 3 methylcrotonyl CoA, using… …   Medical dictionary

  • isovalerylglycine — iso·va·ler·yl·gly·cine (i″so və ler″əl gliґsēn) a conjugate of isovaleric acid and the amide group of glycine; high levels are formed and excreted in the urine in isovalericacidemia …   Medical dictionary

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