RHABDOMYOLYSIS IN CARNITIN-PALMITOYL-TRAN SFERASE DEFICIENCY

Carnitine-palmitoyl-transferase (CPT) deficiency is a rare inborn erro r of metabolism in the pathway of mitochondrial oxidation of long chai n fatty acids. We report the case of a 12 year old girl complaining ab out aching muscle pain, rhabdomyolysis and myoglobinuria probably trig gered by an acute streptococcal tonsilitis. Serum levels of liver enzy mes (transaminases), lactated hydrogenase, creatine kinase and urinary excretion of myoglobin were highly elevated. After initial interventi on with forced diuresis to prevent acute renal failure and treatment w ith penicillin the diagnosis of a CPT-deficiency could be established by biochemical examination of a muscle biopsy. The girl could be disch arged without any residuals of this episode of disease.