Catalog

Short chain acyl-CoA dehydrogenase deficiency

No MMS code

Link to WHO Definition

Short chain acyl-CoA dehydrogenase deficiency – http://id.who.int/icd/entity/180018315

Acyl-CoA dehydrogenase, short chain (SCAD) deficiency is an inborn error of mitochondrial short-chain fatty acid oxidation with variable clinical presentation (muscle tone abnormalities, hypoglycaemia and vomiting at birth, or more frequently, a milder and a specific form with hypotonia and developmental delay) and overexcretion of urinary ethylmalonic acid, and inconstantly of methylsuccinic acid and butyrylglycine.