A family with different clinical forms of acid maltase deficiency (glycogenosis type 11)
A family with different clinical forms of acid maltase deficiency (glycogenosis type 11)
复制标题
具有不同临床形式的酸性麦芽糖酶缺乏症（糖原增多症 11 型）的家族
DOI：
10.1212/wnl.31.10.1209
复制
发表时间：
1981
期刊：
影响因子：
9.9
通讯作者：
J. Tager
中科院分区：
文献类型：
--
作者：
M. Loonen;H. Busch;J. Koster;J. Martin;M. Niermeijer;A. Schram;B. Brouwer;W. Mekes;R. Slee;J. Tager
在同一个家庭中，广泛或婴儿形式的酸性麦芽糖酶缺乏症（糖原累积症11型，庞贝氏症）和肌肉或成人发病的形式影响不同的个人。通过对无症状亲属的肌肉、淋巴细胞、培养的成纤维细胞和尿液中的酸性α-葡萄糖苷酶进行测定，证明了该家族中这两种临床形式的常染色体隐性遗传。目前的生物化学技术不能区分广义型杂合子和肌肉型杂合子。为了解释这两种形式在同一个家庭中的共存，具有全身形式的婴儿或具有肌肉形式的祖父必须是酸性α-葡萄糖苷酶不同突变等位基因的遗传复合物。
In the same family, the generalized or infantile form of acid maltase deficiency (glycogenosis type 11, Pompe disease) and the muscular or adult-onset form affected different individuals. Autosomal-recessive inheritance for the two clinical forms was demonstrated in this family by assay of acid α-glucosidase in muscle, lymphocytes, cultured fibroblasts, and urine of asymptomatic relatives. Current biochemical techniques do not discriminate between persons heterozygous for the generalized form and those heterozygous for the muscular form. To explain the coexistence of both forms in the same family, the infant with the generalized form or her grandfather with the muscular form must have been a genetic compound of different mutant alleles for acid α-glucosidase.