ICD-11 definition : Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain
fatty acid oxidation characterized in most patients by neonatal neurological distress
(lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycemia with
hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.;
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain
fatty acid oxidation characterized in most patients by neonatal neurological distress
(lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycemia with
hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.