isobutyryl-CoA dehydrogenase deficiency
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).
MONDO:0016337
obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)
excluded_subClassOf
MONDO:0019215
classic organic aciduria
is_a
acyl-CoaA dehydrogenase family, member 8, deficiency of
related
isobutyric aciduria
exact
isobutyryl-CoA dehydrogenase deficiency
exact