乳酸脱氢酶缺乏症
- Authors
- William J Craigen, MD, PhD
William J Craigen, MD, PhD
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Basil T Darras, MD
Basil T Darras, MD
- Professor of Neurology
- Harvard Medical School
- 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
- 段晓玲, 住院医师
段晓玲, 住院医师
- 重庆医科大学附属儿童医院康复中心
引言
糖原是葡萄糖的贮存形式，并充当机体需要葡萄糖时的缓冲储备。糖原是葡萄糖经α-1,4糖苷键连接形成的长链聚合物，每4-10个残基插入一个由α-1,6糖苷键连接的支链。糖原在膳食碳水化合物负荷期形成，在葡萄糖需求大或膳食中葡萄糖摄入量少时分解(图 1)。
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，可导致多种遗传性糖原代谢病。这些导致糖原异常累积的疾病称为糖原累积病(glycogen storage disease, GSD)。它们主要按照发现相关酶缺陷的先后顺序以数字进行编号分类(表 1)。发病年龄从胎儿期到成年期不等。
糖原含量最丰富的是肝脏和肌肉，它们是GSD最常累及的部位。肝脏和肌肉中特定酶的生理学意义决定了疾病的临床表现。
●肝糖原的主要作用是贮存葡萄糖，以便将葡萄糖释放到在空腹状态下无法合成大量葡萄糖的组织中。累及肝脏的糖原代谢障碍的主要表现是低血糖和肝肿大。 (参见“糖尿病患者和正常人对低血糖的生理应答”)
●糖原为三磷酸腺苷(adenosine triphosphate, ATP)的生成提供底物，从而充当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是肌肉痉挛、运动不耐受和易疲劳以及进行性肌无力。
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- Hidaka K, Ueda N, Hirata I, et al. First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. J Hum Genet 1999; 44:69.
- Sudo K. [Lactate Dehydrogenase M subunit deficiency]. Rinsho Byori 2002; 50:571.
- Miyajima H, Takahashi Y, Suzuki M, et al. Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. Neurology 1993; 43:1414.
- Tein I. Metabolic myopathies. Semin Pediatr Neurol 1996; 3:59.
- Kanno T, Maekawa M. Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities. Muscle Nerve Suppl 1995; 3:S54.
- Anai T, Urata K, Tanaka Y, Miyakawa I. Pregnancy complicated with lactate dehydrogenase M-subunit deficiency: the first case report. J Obstet Gynaecol Res 2002; 28:108.
- Takayasu S, Fujiwara S, Waki T. Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. J Am Acad Dermatol 1991; 24:339.
- Nazzari G, Crovato F. Annually recurring acroerythema and hereditary lactate dehydrogenase M-subunit deficiency. J Am Acad Dermatol 1992; 27:262.
- Ito T, Aoshima M, Sugiura K, et al. Pustular psoriasis-like lesions associated with hereditary lactate dehydrogenase M subunit deficiency without interleukin-36 receptor antagonist mutation: long-term follow-up of two cases. Br J Dermatol 2015; 172:1674.
- Griggs R, Mendell J, Miller R. Metabolic myopathies. In: Evaluation and treatment of myopathies, Griggs R, Mendell J, Miller R (Eds), FA Davis Company, Philadelphia 1995. p.247.
- Maekawa M, Sudo K, Kanno T, Li SS. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem Biophys Res Commun 1990; 168:677.
- Wakabayashi H, Tsuchiya M, Yoshino K, et al. Hereditary deficiency of lactate dehydrogenase H-subunit. Intern Med 1996; 35:550.
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