Isovaleric acidemia is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. This enzyme is essential to normal metabolism of the amino acid lysine. Clinical manifestations of this disorder are caused by accumulations of large amounts of isovaleric acid and its metabolites in tissue and body fluids.
A rare autosomal recessive metabolic disease affecting leucine metabolism. Isovaleric acid accumulates in the blood during periods of increased amino acid metabolism (i.e., during infections or following ingestion of proteins). Coma and death may occur.