isovaleric acidemia

isovaleric acidemia
An inborn error of leucine metabolism characterized by psychomotor retardation, a specific odor reminiscent of sweaty feet, vomiting, acidosis, and coma; associated with excessive production of isovaleric acid upon protein ingestion or during infectious episodes and is due to a deficiency of isovaleryl-CoA dehydrogenase; severe metabolic acidosis results from the large quantities of acid formed. Autosomal recessive inheritance; two forms are known: 1) the acute neonatal form with fulminant metabolic acidosis and rapid death, and 2) the chronic form characterized by intermittent episodes of severe ketoacidosis. SYN: sweaty feet syndrome.

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isovaleric ac·i·de·mia -.as-ə-'dē-mē-ə n a metabolic disorder characterized by the presence of an abnormally high concentration of isovaleric acid in the blood causing acidosis, coma, and an unpleasant body odor

Medical dictionary. 2011.

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