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  • Title: [Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].
    Author: Meunier J, Perrot D, Bret M, Pissere-Meunier J, Bouletreau P, Pasquier J, Carrier H, Berthillier G.
    Journal: Nouv Presse Med; 1982 Sep 25; 11(37):2767-71. PubMed ID: 7145668.
    Abstract:
    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.
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