[Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].

A 45-year-old man was hospitalized on 3 occasions for recurrent myalgias with paroxysmal myoglobinuria resulting in two episodes of acute renal failure. The second episode was fatal: the patient died of shock and hyperkaliaemia during haemodialysis. The predominant signs and symptoms were muscle pain with functional deficit, signs of renal failure and a rise in serum enzymes. All examinations were negative between attacks. Muscle biopsies showed a major degree of myolysis, and biochemical tests demonstrated severe muscle palmityl transferase deficiency associated with partial deficiency of muscle carnitine. The diagnostic features and physiopathology of the disease are reviewed.