Defective Galactose Oxidation in a Patient with Glycogen Storage Disease and Fanconi Syndrome
Defective Galactose Oxidation in a Patient with Glycogen Storage Disease and Fanconi Syndrome
复制标题
糖原累积病和范科尼综合征患者的半乳糖氧化缺陷
作者：
M. Brivet;Nicole Moatti;A. Corriat;A. Lemonnier;Michel Odièvre
摘要：对一名患有非典型糖原累积病和范科尼综合征的儿童进行了碳水化合物代谢研究。正如之前的病例所报道的，发现了大量的糖尿、对胰高血糖素的部分抵抗以及对碳水化合物负荷的异常反应，主要表现为半乳糖利用的严重受损。在少数特发性范可尼综合征病例中观察到的血乳酸与丙酮酸比率升高并不存在。 [1-14C]半乳糖氧化在红细胞中正常，但在新鲜切碎的肝组织中减少，尽管冷冻肝匀浆中肝半乳激酶、尿苷酰转移酶和UDP-葡萄糖4-差向异构酶的活性正常。这些数据表明迄今为止尚未发现的肝脏半乳糖代谢缺陷。
Summary: Carbohydrate metabolism was studied in a child with atypical glycogen storage disease and Fanconi syndrome. Massive glucosuria, partial resistance to glucagon and abnormal responses to carbohydrate loads, mainly in the form of major impairment of galactose utilization were found, as reported in previous cases. Increased blood lactate to pyruvate ratios, observed in a few cases of idiopathic Fanconi syndrome, were not present. [1-14C]Galactose oxidation was normal in erythrocytes, but reduced in fresh minced liver tissue, despite normal activities of hepatic galactokinase, uridyltransferase, and UDP-glucose 4-epimerase in homogenates of frozen liver. These data suggest a defect in hepatic galactose metabolism not so far identified.