isovaleric acidemia

(redirected from Acidemia, isovaleric)

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 ?
TMS tests: Phenylketonuria, Homocystinura, Maple Syrup Urine Disease, Arginino Succinic Aciduria, Citrullinemia, Propionic Acidemia, Methyl Malonic Acidemia, Isovaleric Acidemia, Beta Ketothiolase deficiency, Glutaric Aciduria types 1 & 2, Medium Chain Acyl-CoA Dehydrogenase deficiency, Very Long Chain Acyl CoA Dehydrogenase deficiency, HMG-CoA Lyase deficiency.
com ACIDEMIA, ISOVALERIC (IVA) See: Acidemia, Organic ACIDEMIA, METHYLMALONIC See: Acidemia, Organic ACIDEMIA, ORGANIC See also: Fatty Oxidation Disorder; Maple Syrup Urine Disease; Metabolic Disorders Organic Acidemia Association 14600 41st Avenue N.