糖原累积症Ⅰ_a型属于常染色体隐性遗传性疾病。是由于葡萄糖-6-磷酸酶(G6Pase)的遗传性缺乏所致的遗传性代谢病,测定肝、肾、小肠粘膜组织G6Pase活性是该病确诊指标。但是,这些组织取材甚难,风险大,以及不能用于产前诊断。为此,70年代以来国外学者曾对绒毛和血小板中是否亦有G6Pase Glycogenosis Ⅰ_a type are autosomal recessive genetic disease. Is a genetic metabolic disease caused by the genetic deficiency of glucose-6-phosphatase (G6Pase). The determination of G6Pase activity in the liver, kidney and small intestine mucosa is a definite indicator of the disease. However, these organizations are hard-pressed and risky and can not be used for prenatal diagnosis. Therefore, since the 1970s, foreign scholars have also G6Pase on villus and platelets