Servidei S, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, New York.
Neurol Clin. 1989 Feb;7(1):159-78.
Glycogen is a crucial source of energy in the initial stages of muscle activity and during exercise of high intensity. There are 10 well-defined biochemical defects of glycogen metabolism expressed in muscle and affecting the following enzymes: alpha 1,4 glucosidase (glycogenesis type II), debrancher enzyme (III), brancher enzyme (IV), phosphorylase (V), phosphofructokinase (VII), phosphorylase b kinase (VIII), phosphoglycerate kinase (IX), phosphoglycerate mutase (X), lactate dehydrogenase (XI). These disorders cause two main syndromes: one characterized by exercise intolerance with cramps and myoglobinuria, the other by fixed weakness. However, there are examples of clinical and biochemical heterogeneity for each disease, and molecular genetic analysis is already showing evidence of genetic heterogeneity. Although our understanding of the biochemical errors has progressed considerably, the pathogenesis of symptoms and signs remains incomplete.
糖原是肌肉活动初始阶段及高强度运动期间的关键能量来源。肌肉中存在10种明确的糖原代谢生化缺陷，影响以下酶：α-1,4-葡萄糖苷酶（糖原贮积症Ⅱ型）、脱支酶（Ⅲ型）、分支酶（Ⅳ型）、磷酸化酶（Ⅴ型）、磷酸果糖激酶（Ⅶ型）、磷酸化酶b激酶（Ⅷ型）、磷酸甘油酸激酶（Ⅸ型）、磷酸甘油酸变位酶（Ⅹ型）、乳酸脱氢酶（Ⅺ型）。这些疾病导致两种主要综合征：一种以运动不耐受伴痉挛和肌红蛋白尿为特征，另一种以固定性肌无力为特征。然而，每种疾病都有临床和生化异质性的例子，分子遗传学分析已显示出遗传异质性的证据。尽管我们对生化错误的理解有了很大进展，但症状和体征的发病机制仍不完整。
