Isovaleric acidemia

MONDO:0009475

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

Also known as: Isovalericacidemia, isovaleric acid CoA dehydrogenase deficiency, isovaleric acidemia, isovaleryl-CoA dehydrogenase deficiency, IVA, IVD deficiency, isovaleric acid Coa dehydrogenase deficiency, isovaleryl CoA carboxylase deficiency

26 clinical trials for this condition and its sub-types.

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