Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Classic organic aciduria
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).
This condition has no sub-types.