[麦克尔憩室病。关于一例病例]

[McArdle's disease. Apropos of a case].

作者信息

Yuste J R, Beloqui O, De la Peña A, Rodríguez-Rosado R, Monreal J I, Prósper F, Prieto J

机构信息

Departamento de Medicina Interna, Facultad de Medicina, Universidad de Navarra.

出版信息

Rev Med Univ Navarra. 1998 Jan-Mar;42(1):29-33.

PMID:10420954

Abstract

McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern. Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness. We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.

摘要

麦克尔迪氏病（糖原贮积病Ⅴ型）是一种碳水化合物代谢紊乱疾病，呈常染色体隐性遗传模式。其生化特征为肌磷酸化酶缺乏；临床上的特点是运动不耐受，这是由于无法为肌肉提供能量底物，还会出现肌痛和肌肉僵硬。我们报告一例麦克尔迪氏病患者的病例，并对诊断程序和当前的治疗选择进行讨论。