肝糖原合酶缺乏症(0型糖原累积症)
- Author
- William J Craigen, MD, PhD
William J Craigen, MD, PhD
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Section Editor
- Sihoun Hahn, MD, PhD
Sihoun Hahn, MD, PhD
- Section Editor — Genetics
- Professor of Pediatrics
- University of Washington School of Medicine, Seattle Children's Hospital
- Deputy Editor
- Elizabeth TePas, MD, MS
Elizabeth TePas, MD, MS
- Senior Deputy Editor — UpToDate
- Deputy Editor — Allergy and Immunology
- Deputy Editor — Pediatrics
- Instructor in Medicine
- Harvard Medical School
- Translators
- 王宇芳, 副主任医师
王宇芳, 副主任医师
- 杭州市第三人民医院消化内科
引言
糖原是葡萄糖的贮存形式，当机体需要葡萄糖时起缓冲储备作用。它是α-1,4糖苷键连接的长链聚合物，每4-10个残基由α-1,6糖苷键构成支链。糖原是在饮食碳水化合物负荷期形成的，在葡萄糖需求量较大或能获得的饮食较少时进行分解(图 1)。
对于编码参与糖原合成、分解或调节的几乎所有蛋白质的基因，发生突变时都可导致多种先天性糖原代谢病。可导致糖原异常储存的疾病被称为糖原累积病(glycogen storage disease, GSD)。这类疾病主要是根据发现相关酶缺乏症的年代编号来进行分类(表 1)。发病年龄可有所差异，从胎儿到成人期不等。
在肝脏和肌肉组织中所含糖原最丰富，其也是该疾病最常累及的部位。肝脏及肌肉中某一特定酶的生理意义决定疾病的临床表现。
●肝脏中糖原的主要作用是储备葡萄糖，以便在空腹期间机体不能合成大量葡萄糖时释放至组织。累及肝脏的糖原代谢障碍的主要表现为低血糖和肝肿大。 (参见“糖尿病患者和正常人对低血糖的生理应答”)
●糖原可为ATP合成提供底物，是高强度肌肉活动的主要能量来源。累及肌肉的糖原代谢障碍的主要表现为肌肉痉挛、运动不耐受和易疲劳，以及进行性肌无力。
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