论文部分内容阅读
糖原代谢病是一组因参与糖原合成或分群代谢的酶缺乏所引起的疾病,目前已分为13型,有的还有亚型,其中Ⅰ、Ⅲ、Ⅳ型最常见,为常染色体隐性遗传。Ⅰ型糖原代谢常(又称Von Gierke＇s)是葡萄糖-6-磷酸酶缺乏所引起的。该酶的作用是催化6-磷酸葡萄糖水解为游离葡萄糖,此酶主要存在于肝脏、小肠粘膜细胞中,在血小板中也显有活性,Ⅰ型临床特征为糖原在肝中蓄积,引起肝大、腹部明显膨出,严重者肾脏有糖原蓄积,空腹血糖低,易发低血糖症伴有抽搐、昏迷等征群。患者身材矮小,发育迟缓为主要特征。其诊断除根据临床症状并排除其它疾病引起的肝脏肿大
Glycogen metabolism is a group of diseases caused by enzymes involved in glycogen synthesis or metabolism. It has been divided into 13 types and some subtypes. Among them, type I, III, and IV are the most common and are autosomal Hidden inheritance. Type I glycogen metabolism (also known as Von Gierke’s) is caused by glucose-6-phosphatase deficiency. This enzyme catalyzes the hydrolysis of 6-phosphoglucose to free glucose. This enzyme is mainly found in the liver and small intestinal mucosa. It is also active in platelets. Type I clinical features are the accumulation of glycogen in the liver, causing hepatomegaly , The abdomen was significantly bulging, severe kidney glycogen accumulation, fasting blood glucose is low, prone to hypoglycemia associated with convulsions, coma and other Zheng group. Patients are short stature, developmental delay as the main feature. In addition to its diagnosis based on clinical symptoms and rule out other diseases caused by liver enlargement