/isobutyryl-CoA dehydrogenase deficiency

isobutyryl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0012648

Also Known As

isobutyric aciduriaisobutyryl-CoA dehydrogenase deficiencyAcad8 deficiencyIBD deficiencyacyl-Coa dehydrogenase family, member 8, deficiency ofacyl-CoaA dehydrogenase family, member 8, deficiency of

Definition

An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).