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