User:Mr. Ibrahem/Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II deficiency (CPT-II) is a genetic disorder that presents in three forms: neonatal, severe infantile, and myopathic. The neonatal form generally results in death within a few months due to heart and breathing problems. The infantile form results in liver, heart, and muscle problems in the first year of life. The myopathic form results in episodes of muscle pain and breakdown; while otherwise being normal. Episodes may be triggered by exercise or fasting.

It results from certain mutations in the CPT2 gene. It is inherited from a person's parents in an autosomal recessive manner. The underlying mechanism involves a defective enzyme that prevents long-chain fatty acids from being used by mitochondria as an energy source. Diagnosis may be based on finding reduced enzyme activity in muscle or by genetic testing.

Treatment involves regularly eating a high carbohydrate diet and avoiding triggers. Only specific fats should be eaten; specifically long-chain fatty acids needs to be reduced while about a third of calories can be from medium-chain fatty acids. Carnitine supplements are recommended. Outcomes of the myopathic form are generally good. Outcomes in the other forms are poor.

CPT2 is rare, affecting an estimated 1 in 10,000 to 100,000 people. It is the most common disorder of lipid metabolism causing skeletal muscle problems and the most common genetic cause of muscle breakdown. It was first described in 1973 by DiMauro and DiMauro.