isobutyryl-CoA dehydrogenase deficiency
isobutyryl-CoA dehydrogenase deficiency
A hereditary condition (OMIM:611283) that first appears in late infancy or childhood, which is characterised by failure to thrive, dilated cardiomyopathy, seizures and anaemia.Molecular pathology
Defects in ACAD8, which encodes a dehydrogenase that functions in valine catabolism, cause IBDD.