Carnitine palmitoyltransferase II deficiency

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

potential causes

epidemiology

M>F

risk factors

labimaging

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

conventional treatment

complications

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

prevention

protocols