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 ?
During remission the goal of therapy is to prevent acute attacks of isovaleric acidemia by minimizing the accumulation of isovaleric acid and 3-hydroxyisovaleric acid, as well as to prevent the depletion of carnitine stores.
Isovaleric acidemia is a rare autosomal recessive disorder of L-leucine catabolism manifested as either the acute severe form or the chronic intermittent form.
Long-term L-carnitine treatment in isovaleric acidemia.
Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay.
Dietary treatment of an infant with isovaleric acidemia.
Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.
Therapeutic effects of glycine in isovaleric acidemia.
The treatment of isovaleric acidemia with glycine supplement.
3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia.