Wakid N W, Bitar J G, Allam C K
Department of Biochemistry, American University of Beirut, Lebanon.
Clin Chem. 1987 Nov;33(11):2008-10.
A study of 20 cases of glycogen storage disease type I has shown differences from the classical picture. Hyperuricemia was observed in fewer than half of the cases. All patients had increased triglycerides in serum, but fewer than two thirds had increased concentrations of total cholesterol. There was a consistent increase of aminotransferases in serum. Many textbooks discuss hyperuricemia, lactic acidemia, and lipidemia in this disease without mentioning aminotransferases, and above-normal values for these enzymes ought to be given consideration, to avoid misdiagnosis. Glycogen storage disease type IB was detected by comparing glucose-6-phosphatase (EC 3.1.3.9) activity in frozen and unfrozen portions of the same liver biopsy. Latent activity, which appeared after freezing, increased the total activity to within the normal range (4.7-9.1 mumol/min per gram of tissue, wet weight) in type IB, but not in type IA.
一项对20例I型糖原贮积病的研究显示，其表现与经典情况有所不同。高尿酸血症在不到一半的病例中出现。所有患者血清甘油三酯均升高，但总胆固醇浓度升高的患者不到三分之二。血清转氨酶持续升高。许多教科书在讨论该疾病时提及了高尿酸血症、乳酸性酸中毒和血脂异常，但未提及转氨酶，这些酶高于正常的值应予以考虑，以避免误诊。通过比较同一肝脏活检冷冻和未冷冻部分的葡萄糖-6-磷酸酶（EC 3.1.3.9）活性来检测I B型糖原贮积病。冷冻后出现的潜在活性使I B型的总活性增加到正常范围内（每克组织湿重4.7 - 9.1微摩尔/分钟），而I A型则没有。
