Wright E M
Physiology Department, University of California School of Medicine, Los Angeles, California 90095-1751, USA.
Am J Physiol. 1998 Nov;275(5):G879-82. doi: 10.1152/ajpgi.1998.275.5.G879.
Glucose Galactose Malabsorption is a genetic disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Normally, lactose in milk is broken down into glucose and galactose by lactase, an ectoenzyme on the brush border, and the hexoses are transported into the cell by the Na+-glucose cotransporter SGLT1. The mutations causing the defect in sugar transport have been identified in patients from 33 kindreds, and functional studies have established how these mutations cause the disease.
葡萄糖半乳糖吸收不良是一种遗传性疾病,由肠道刷状缘葡萄糖和半乳糖转运缺陷引起。正常情况下,牛奶中的乳糖被刷状缘外切酶乳糖酶分解为葡萄糖和半乳糖,己糖通过钠-葡萄糖共转运蛋白SGLT1转运进入细胞。在33个家族的患者中已鉴定出导致糖转运缺陷的突变,功能研究已确定这些突变如何导致该疾病。