CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

Metabolic Abnormality
CK normal between episodes 
Carnitine palmitoyltransferase II deficiency
Exercise myoglobinuria 
Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise 
Normal plasma and tissue carnitine 
Neurologic Abnormality
Muscle cramps
Rhabdomyolysis induced by prolonged exercise or fasting
Genitourinary
Renal insufficiency
Muscle
Muscle pain 
Muscle stiffness 
Muscle weakness following prolonged exercise 
Rhabdomyolysis 
General
Onset in adolescence or adulthood 
Onset in adolescents or young adults
Some heterozygous CPT2 mutation carriers may be symptomatic 
Triggered by exercise, fasting, or other metabolic stresses