Isobutyryl-CoA dehydrogenase deficiency

Definition

A rare organic aciduria characterized by isolated elevation of C4-acylcarnitine. Patient may be asymptomatic (notably during the early childhood) or may present with anemia, dilated cardiomyopathy, mild peripheral pulmonary stenosis, and carnitine deficiency. Mild developmental delay, speech delay, muscle hypotonia, emesis and dehydration have also been reported.