isovaleric acidemia
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.
MONDO:0019215
classic organic aciduria
is_a
IVA
related
Isovalericacidemia
exact
isovaleric acid CoA dehydrogenase deficiency
exact
isovaleric acidemia
exact
isovaleryl CoA carboxylase deficiency
related
isovaleryl-CoA dehydrogenase deficiency
exact