[Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)].
[Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)].
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[成人假性营养不良性肌糖原增多症。
DOI：
10.1007/bf00312870
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发表时间：
1976
影响因子：
6
通讯作者：
H. Mattern
中科院分区：
文献类型：
--
作者：
F. Gullotta;H. Stefan;H. Mattern
一名40岁男性患有类似非典型肢带营养不良的进行性近端肌病5年。通过肌电图确定具有肌强直和假性肌强直放电的“肌病”模式。酶组织化学和超微结构研究肌肉和肝脏活检指出糖原。肌肉和肝脏样本的生化调查证实了这一诊断，揭示了酸性麦芽糖酶缺乏症。糖原填充的溶酶体也发现电子光学皮肤成纤维细胞，但不是在白色blood cells.The文献有关的晚发型形式的酸性麦芽糖酶缺乏症（II型糖原病）进行了审查，并与婴儿的形式（庞贝氏症）的临床过程进行了比较。在婴儿早期，这种疾病的病程短而致命，累及许多器官，主要是骨骼肌、肝脏和心脏。在婴儿晚期和少年期，病程较缓慢，器官受累不严重，肌肉症状开始占优势。在成人中，II型糖原累积症类似于肌营养不良症，其病程延长且几乎仅累及近端肌肉。然而，生物化学和超微结构研究表明，其他器官和组织也参与其中。不同年龄的器官受累的差异性的原因尚不清楚。
A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A “myopathic” pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to a glycogenosis. Biochemical investigations of muscle and liver samples confirmed this diagnosis, disclosing an acid maltase deficiency. Glycogen filled lysosomes were also revealed electron optically in skin fibroblasts but not in white blood cells.The literature concerning the late onset forms of acid maltase deficiency (type II glycogenosis) has been reviewed, and the clinical course has been compared with that of the infantile form (Pompe's disease). In early infancy the disease has a short and fatal course, with involvement of many organs, primarily skeletal muscles, liver and heart. In the late infantile and juvenile forms the course of the disease is slower, the organ involvement beeing not as severe; muscular symptoms begin to prevail. In adults, type II glycogenosis mimics muscular dystrophy with its prolonged course and the almost exclusive clinical involvement of proximal muscles. Biochemical and ultrastructural investigations have nevertheless demonstrated that other organs and tissues are also involved. The reasons for the variability of organ involvements in different ages are as yet unknown.