Catalog

Carnitine-acylcarnitine translocase deficiency

No MMS code

Link to WHO Definition

Carnitine-acylcarnitine translocase deficiency – http://id.who.int/icd/entity/677949122

Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.