Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases.
Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases.
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骨骼肌糖原贮积病。
DOI：
10.1007/978-3-642-81553-9_85
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
J. Ricoy
中科院分区：
文献类型：
--
作者：
A. Cabello;T. Benlloch;O. Franch;J. Feliu;J. Ricoy
我们分析了10例骨骼肌糖原蓄积症患者的临床、组织学和生化表现。4名患者缺乏酸性α-葡萄糖苷酶(II型糖原沉积症)，其中3名婴儿起病较晚，1名成人患者。5名患者，其中两名是兄弟姐妹，肌磷酸酶缺乏(糖原V型，McArdle病)。1例为新生儿磷酸果糖酪氨酸激酶缺乏症(糖原VII型，塔鲁氏病)。在我们的病例研究中，我们想概述以下特征：在II型糖原沉积症中，沉积基本上是在婴儿期的胞体内，在间质成纤维细胞中发现了粘多糖的储存和沉积，而在成人型中，糖原储存很少。在V型糖原沉积症中，糖原的储存是免费的，而且量很少。在两名患者中，我们观察到再生纤维中的酶活性。在VII型糖原沉积症中，储存是自由的，数量相当多，间质细胞也受到影响；在卫星细胞中没有观察到储存。
We analyzed clinical, histological and biochemical findings in 10 patients with glycogen storage disease in skeletal muscle. Four patients were deficient in acid-alpha-glucosidase (Glycogenosis type II), three of them with late infantile onset and one patient adult form. Five patients, two of them siblings, were deficient in myophosphorylase (glycogenosis type V, McArdle’s disease). One patient was a newborn with phosphofruc-tokinase deficiency (glycogenosis type VII, Tarui’s disease). Of the study of our cases we would like to outline the following features: in the glycogenosis type II the deposit is fundamentally intraly-sosomal in the late infantile form, storage of mucopolysaccharides and deposit in interstitial fibroblasts were found, while in the adult form glycogen storage is minimal. In the glycogenosis type V the storage of glycogen is free and of a small amount. In two patients we have observed enzymatic activity in regenerating fibres. In glycogenosis type VII the storage is free, of considerable quantity and the interstitial cells are also affected; no storage is observed in the satellite cells.