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1型糖原病可分为1a型和1b型。1a型是一种缺乏葡萄糖-6-磷酸酶(G-6-Pase)基因所产生的疾病。而在1b型,尽管肝中G-6-Pase水平正常,但临床症状与1a型相同。作者于1978年查明了1b型的病因是微粒体膜的G-6-P转运系发生障碍。最近,作者见到临床表现不同的二例1b型患者。病例1为2个月的男婴,以显著低血糖为主要特征,属重症。病例2为25岁妇女,在20岁时诊断为1型糖原病,但至今未曾出现低血糖,属轻症。作者研究了这二例患者的G-6-P酶系,结果表明,①完整微粒体中G-6-Pase的活性在例1为0.003μmol/min/克肝,例2为0.85μmol/min/克肝,与对照(3.42～5.22μmol/min/克肝)比较,明显下
Type 1 glycogenosis can be divided into type 1a and type 1b. Type 1a is a disease that is devoid of the G-6-Pase gene. In type 1b, the clinical symptoms were the same as in type 1a despite the normal levels of G-6-Pase in the liver. The authors identified in 1978 the cause of type 1b as an obstacle to the G-6-P transport of microsomal membranes. Recently, the authors saw two patients with type 1b who had different clinical manifestations. Case 1 is a 2-month-old boy with significant hypoglycemia as the main feature, is a severe disease. Case 2 was a 25-year-old woman diagnosed with type 1 glycogenosis at the age of 20, but so far no hypoglycemia has occurred and is mild. The authors studied G-6-P enzyme in these two patients and found that ① the activity of G-6-Pase in intact microsomes was 0.003 μmol / min / g in case 1, 0.85 μmol / min in case 2 / G liver, compared with the control (3.42 ~ 5.22μmol / min / g liver), significantly lower