Catalog

Carnitine transporter deficiency

No MMS code

Link to WHO Definition

Carnitine transporter deficiency – http://id.who.int/icd/entity/526376450

Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycaemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections.