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).

Also known as: isobutyric aciduria, isobutyryl-CoA dehydrogenase deficiency, Acad8 deficiency, IBD deficiency, acyl-Coa dehydrogenase family, member 8, deficiency of, acyl-CoaA dehydrogenase family, member 8, deficiency of

0 clinical trials for this condition and its sub-types, 0 tagged with Isobutyryl-CoA dehydrogenase deficiency itself.