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典型的Ⅰ型糖原累积病(GSD)是肝和肾中6-磷酸葡萄糖酶(G6Pa)活性缺乏引起的。临床上,该病通常出现于婴幼儿时期。G6Pa是一个多成分系统,它包括存在于内质网管壁上的G6Pa和允许6-磷酸葡萄糖(T_1)进入内质网以及磷酸(T_2)、葡萄糖(T_3)从内质网出来的三个转移酶系统。上述成分的任何一种缺乏将影响6-磷酸葡萄糖的水解,而导致Ⅰ型GSD。目前,将G6Pa本身缺乏引起的典型GSD称为Ia型;因转移酶T_1缺乏引起的GSD称为Ib型;
A typical type I glycogen storage disease (GSD) is caused by a lack of activity of G6Pa in the liver and kidneys. Clinically, the disease usually occurs in infancy. G6Pa is a multi-component system consisting of G6Pa present on the endoplasmic reticulum wall and three endoplasmic reticulum (T_3) that allow 6-phosphoglucose (T_1) to enter the endoplasmic reticulum and phosphorylate (T_2) Transferase system. Any lack of these components will affect the hydrolysis of 6-phosphoglucose, resulting in type I GSD. At present, the typical GSD caused by lack of G6Pa itself is called type Ia; the GSD caused by the lack of transferase T_1 is called type Ib;