Catalog

Medium chain acyl-CoA dehydrogenase deficiency

No MMS code

Link to WHO Definition

Medium chain acyl-CoA dehydrogenase deficiency – http://id.who.int/icd/entity/627734797

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of mitochondrial fatty acid oxidation, clinically characterised by acute episodes of hypoketotic hypoglycaemia with hepatomegaly (pseudo Reye syndrome), triggered by fasting or infections, which occur generally within the two first years of life. There is no muscle nor cardiac involvement.