isovaleric acidemia


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i·so·va·ler·ic ac·i·de·mi·a

(ī'sō-vă-ler'ik as'i-dē'mē-ă), [MIM*243500]
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; 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: the acute neonatal form with fulminant metabolic acidosis and rapid death and the chronic form characterized by intermittent episodes of severe ketoacidosis.

isovaleric acidemia

A rare autosomal recessive metabolic disease affecting leucine metabolism. Isovaleric acid accumulates in the blood during periods of increased amino acid metabolism. Coma and death may occur.
See also: acidemia
References in periodicals archive ?
In conclusion, isovaleric acidemia is a rare disorder that is and should be detected through newborn screening.
The treatment of isovaleric acidemia with glycine supplement.
Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family.
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency.
Isovaleric acidemia appearing as diabetic ketoacidosis.