Venturini E, Pupeschi L
Divisione di Medicina, Presidio Ospedaliero, USSL n. 31, Lovere, Bergamo.
Recenti Prog Med. 1994 May;85(5):282-3.
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.
肌红蛋白尿最常见的代谢原因似乎是肉碱棕榈酰转移酶II缺乏症。作者描述了一个病例，试图解释残余酶活性的特点及其对预后的重要性。该疾病的遗传病因强调了卫生行为和左旋肉碱作为致病疗法的作用。
