Home Metabolic myopathy: Carnitine palmitoyltransferase II deficiency

Metabolic myopathy: Carnitine palmitoyltransferase II deficiency

Types

Defining Characteristics

Recurrent rhabdomyolysis in adults after prolonged exercise or fasting, proximal weakness later in life

Disease Development

Deficiency in enzyme required for transport of LCFA from cytosol to mitochondria

Epidemiology

M>F

Lab/Imaging

nl CK and EMG; dx requires direct measure of muscle CPT or genetic testing

Complications

Diagnosis needed to treat pts and avoid recurrent hospital admissions for renal failure