[Myoglobinuria due to a deficiency of carnitine palmitoyltransferase II. A clinical case report].
The most frequent metabolic cause of myoglobinuria seems to be carnitine palmitoyl-transferase II deficiency. The authors describe a case, trying to explain the peculiarities and the importance, for the prognosis, of the residual enzymatic activity. The genetical etiology of the disease emphasize the role of hygienic behavior and of the L-carnitine as pathogenetic therapy.
Venturini
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E
Divisione di Medicina, Presidio Ospedaliero, USSL n. 31, Lovere, Bergamo.
Pupeschi
L
L
D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D009212:Myoglobinuria / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics
D002334:Carnitine O-Palmitoyltransferase
Mioglobinuria da deficit di carnitina palmitoil-transferasi II. Descrizione di un caso clinico.