糖原累积症Ⅲ型,系糖原脱枝酶活性降低所致的常染色体隐性遗传病。患者的肝脏,明显地蓄积大量极限糊精结构的分枝糖原。此酶缺陷,常见于肝脏、肌肉、白细胞和红细胞。本病虽然不直接威胁生命,但可出现某些合并症。所以已分娩过一例糖原累积症Ⅲ型患儿的孕妇,在下一次妊娠时,应进行产前诊断。作者测定了患者JD 培养细胞的淀粉-1,6-葡糖苷酸酶活性。培养细胞取材于患者和双亲的皮肤活体组织,将成纤维细胞置于含有15%胎牛血清的Ham’s FIO 培养基内,对照者的细胞做同样处理。妊娠16周进 Glycogenosis type Ⅲ, glycogen decarboxylase activity decreased autosomal recessive disease. The patient’s liver clearly accumulates a large amount of branched glycogen of the ultimate dextrin structure. This enzyme defect, common in the liver, muscle, white blood cells and red blood cells. Although the disease is not a direct threat to life, but some complications may occur. Therefore, a child has been given glycogenosis type Ⅲ in pregnant women, the next pregnancy, prenatal diagnosis should be carried out. The authors measured the starch-1,6-glucuronidase activity of patients’ JD cultured cells. Cultured cells were obtained from the living skin of the patient and their parents. Fibroblasts were placed in Ham’s FIO medium containing 15% fetal bovine serum, and the cells of the control were treated in the same manner. 16 weeks into pregnancy