[儿童期肌肉磷酸化酶缺乏症。病例报告]

[Muscle phosphorylase deficiency in childhood. A case report].

作者信息

Bruno C, Iester A, Bado M, Morreale G, Broda P, Minetti C, Cordone A, Cordone G

机构信息

Servizio Autonomo per la Diagnosi, Istituto Giannina Gaslini, Genova.

出版信息

Minerva Pediatr. 1994 Oct;46(10):459-62.

PMID:7808367

Abstract

Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.

摘要

肌磷酸化酶缺乏症或麦卡德尔病在儿童期很少被识别。发病通常在青春期或成年期，表现为运动不耐受、肌肉痉挛和肌红蛋白尿。本文描述了两名分别为6岁和2岁的兄弟姐妹。首例患者表现出早期疲劳，两人的肌酸激酶（CK）水平均升高。肌肉活检的形态学和生化研究显示存在肌磷酸化酶缺陷。