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.