ACID MALTASE DEFICIENCY IN ADULTS - STUDIES IN 4 CASES OF A SYNDROME WHICH MAY MIMIC MUSCULAR DYSTROPHY OR OTHER MYOPATHIES
ACID MALTASE DEFICIENCY IN ADULTS - STUDIES IN 4 CASES OF A SYNDROME WHICH MAY MIMIC MUSCULAR DYSTROPHY OR OTHER MYOPATHIES
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DOI：
10.1093/brain/93.3.599
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发表时间：
1970-01-01
期刊：
影响因子：
14.5
通讯作者：
ENGEL, AG
中科院分区：
文献类型：
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作者：
ENGEL, AG
1959年，Sant'Agnese提出，显著的心脏增大、广泛的糖原蓄积、正常的糖原结构、肝脏和肌肉中正常的糖原分解以及婴儿期死亡是”糖原性心脏肥大症”的诊断标准，这种疾病由Pompe在1932年描述。从那时起，由于Hers在婴儿病例中发现了酸性麦芽糖酶缺乏症（AMD）（Hers，1963），2型糖原累积症的临床概念逐渐经历了修订。在较轻的病例中，心脏损伤很小，发现患者可以存活超过2岁，甚至活到生命的第二个十年（讨论中引用的病例）。这项研究表明，AMD也可以表现为成人肌肉无力综合征。在过去的四年中，4例这样的患者在马约诊所进行了研究。其中2例临床诊断为肌营养不良，另2例为肌营养不良或可能的多发性肌炎。1968年，Engel和Dale报告了第一例的形态学和初步生化观察结果。在其他情况下，如在第一，空泡性肌病和过量的高碘酸希夫（PAS）反应材料的空泡建议存储疾病，而电子显微镜显示广泛的隔离糖原在膜结合囊。形态学检查结果提示生化检查显示所有4例患者肌糖原和AMD过量。Hudgson等人于1968年报告了另一例在成年期表现为虚弱的AMD病例。
IN 1959 Sant'Agnese suggested that marked cardiac enlargement, generalized glycogen storage, normal glycogen structure, normal glycogenolysis in liver and muscle, and death in infancy were the diagnostic criteria of" cardiomegalia glycogenica," the disease described by Pompe in 1932. Since then, as a consequence of Hers' discovery of acid maltase deficiency (AMD) in infantile cases of the disease (Hers, 1963), the clinical concept of type 2 glycogenosis has gradually undergone a revision. In milder cases, with little cardiac damage, the patients were found to survive beyond the age of 2 years or even into the second decade of life (cases cited in Discussion). This study shows that AMD can also present as a syndrome of muscular weakness in adults. In the past four years, 4 such patients were studied at the Mayo Clinic. The clinical diagnosis was muscular dystrophy in 2 of these cases and muscular dystrophy or possibly polymyositis in the other 2. Morphological and preliminary biochemical observations in the first case were reported in 1968 by Engel and Dale. In the other cases, as in the first, a vacuolar myopathy and an excess of periodic acid-Schiff (PAS) reactive material in the vacuoles suggested a storage disease while electron microscopy demonstrated extensive sequestration of glycogen in membrane-bound sacs. The morphological findings prompted biochemical investigations which showed an excess of muscle glycogen and AMD in all 4 cases. Another case of AMD presenting with weakness in adult life was reported by Hudgson et al. in 1968.