Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II deficiency is a congenital lipid metabolism disorder which is divided into three forms, which are the myopathic, severe infantile and neonatal forms.

The most common one, myopathic carnitine palmitoyltransferase II deficiency, shows the mildest course of disease. Symptoms can be induced through fasting, physical activity, or viral infections, including rhabdomylosis and muscle aches.

The severe infantile CPT II deficiency affects only about 8% of all patients. The disease leads to critical metabolic imbalances. The neonatal form is lethal, also including dysmorphic symptoms.

CPT II deficiency is caused by multiple mutations in the CPT2 gene and is inherited as an autosomal recessive trait.