CORNSTARCH THERAPY IN TYPE-I GLYCOGEN-STORAGE DISEASE
CORNSTARCH THERAPY IN TYPE-I GLYCOGEN-STORAGE DISEASE
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DOI：
10.1056/nejm198401193100306
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发表时间：
1984-01-01
影响因子：
158.5
通讯作者：
SIDBURY, JB
中科院分区：
文献类型：
--
作者：
CHEN, YT;CORNBLATH, M;SIDBURY, JB
I 型糖原贮积病是一种遗传性的肝脏、肾脏和肠道中葡萄糖-6-磷酸酶活性缺失或缺乏的疾病，与这些器官中糖原的积累有关。肝脏中葡萄糖-6-磷酸酶活性的缺乏会迅速导致禁食时的低血糖，因为通过正常的糖原分解和糖异生从葡萄糖-6-磷酸中释放的葡萄糖不充分。其他临床表现包括生长迟缓、肝肿大、乳酸性酸中毒、高尿酸血症和高脂血症。这些异常大多数归因于低血糖，因为维持正常葡萄糖浓度的治疗可以纠正大多数代谢异常和生长迟缓。到目前为止，各种 . 。 。
TYPE I glycogen-storage disease, an inherited absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestines, is associated with the accumulation of glycogen in those organs. The lack of glucose-6-phosphatase activity in the liver rapidly leads to hypoglycemia in fasting, because of the inadequate release of glucose from glucose-6-phosphate through normal glycogenolysis and gluconeogenesis. Other clinical manifestations include growth retardation, hepatomegaly, lactic acidosis, hyperuricemia, and hyperlipidemia. Most of these abnormalities have been attributed to the hypoglycemia, since treatments that maintain normal glucose concentrations correct most of the metabolic abnormalities and growth retardation. So far, the various kinds of . . .