Carnitine palmitoyltransferase II deficiency: CPT2 Sequencing

Diagnostic Use

Defects in the CPT2 gene are the cause of carnitine palmitoyltransferase II deficiency (CPT II deficiency) [MIM:255110,600649]. CPT II deficiency is an autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.


Genetics - Molecular Pathology

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Turnaround Time

4 weeks

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