[PDF] Carnitine transporter deficiency

British Inherited Metabolic Disease Group
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
01 January 2009


Carnitine transporter deficiency usually presents with cardiomyopathy and muscle weakness. It responds well to carnitine supplementation and for most of the time patients are healthy.  However infections, fasting and particularly vomiting can lead to serious illness with encephalopathy and hypoglycaemia.   

Carnitine Transporter Deficiency also known as Systemic carnitine deficiency

Last reviewed September 2016