Yang B Z, Stewart C, Ding J H, Chen Y T
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Neuromuscul Disord. 1991;1(3):173-6. doi: 10.1016/0960-8966(91)90021-j.
A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglycemia, seizure disorder or growth retardation. Muscle weakness was not apparent until the sixth decade. Despite the mild clinical course, debranching enzyme activity was not detectable by biochemical assay, and immunoblot analysis using a polyclonal antibody showed a complete absence of debrancher protein. Thus, mild clinical manifestations in this patient could not be explained by the residual debrancher enzyme and/or activity.
一名54岁女性因胸痛和血清肌酸激酶水平升高就诊，被诊断为III型糖原贮积病。除童年时有肝肿大病史外，她身体健康，生活正常。无低血糖、癫痫发作或生长发育迟缓。直到60岁才出现明显的肌肉无力。尽管临床过程较轻，但生化检测未检测到脱支酶活性，使用多克隆抗体的免疫印迹分析显示完全不存在脱支酶蛋白。因此，该患者的轻度临床表现无法用残留的脱支酶和/或活性来解释。
