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肌肉磷酸化酶缺乏症(糖原累积病Ⅴ型，McArdle病)

Authors
Basil T Darras, MD
William J Craigen, MD, PhD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS
Translators
章秋, 主任医师

引言

糖原是葡萄糖的储存形式，以缓冲机体需要葡萄糖时的供应。糖原是由葡萄糖通过α-1,4糖苷键相连的长链聚合物构成，并且每4-10个残基出现一个α-1,6糖苷键分支点。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。

本专题将总结肌肉磷酸化酶(肌磷酸化酶)缺乏症(GSD Ⅴ，MIM #232600)的相关内容，该疾病也称为McArdle病[1]。GSD的概述见其他专题。 (参见“葡萄糖和糖原的遗传性代谢病概述”)

                    

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Literature review current through: 2017-06 . | This topic last updated: 2015-11-24.
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