Ⅲ型糖原贮积病。病例报告。
Glycogen storage disease type III. A case report.
作者信息
de Waal A, Röhm G F, Hoek B B, Potgieter G M, Oosthuysen W T
出版信息
S Afr Med J. 1984 Jan 7;65(1):23-5.
A 5-year-old Black boy presented with massive hepatomegaly and muscle weakness. Liver biopsy revealed the presence of glycogen pools in the cytoplasm and nuclei of hepatocytes. Erythrocyte glycogen levels, identified as limit dextrin, were grossly increased. The galactose tolerance test as well as the two-stage glucagon stimulation test suggested a decrease in activity of both amylo-1,6-glucosidase and glucose-6-phosphatase enzymes. This was confirmed by direct assays performed on liver tissue and erythrocytes. The decrease in glucose-6-phosphatase activity was attributed to a secondary effect of limit dextrin.
一名5岁黑人男孩出现肝脏肿大和肌肉无力症状。肝脏活检显示肝细胞的细胞质和细胞核中存在糖原池。红细胞糖原水平（鉴定为极限糊精）显著升高。半乳糖耐量试验以及两阶段胰高血糖素刺激试验表明，淀粉-1,6-葡萄糖苷酶和葡萄糖-6-磷酸酶的活性均降低。这一点通过对肝脏组织和红细胞进行的直接检测得到了证实。葡萄糖-6-磷酸酶活性的降低归因于极限糊精的继发效应。
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