Hereditary metabolic myopathies.
Hereditary metabolic myopathies.
复制标题
遗传性代谢性肌病。
DOI：
10.1007/978-1-4684-4907-5_3
复制
发表时间：
1985
影响因子：
--
通讯作者：
DiMauro,S
中科院分区：
文献类型：
--
作者：
Miranda,AF;Mongini,T;DiMauro,S
已知的影响骨骼肌的糖原代谢和糖酵解的遗传酶缺陷有九种。“代谢性肌病”可分为两大类：1.以单分子形式出现的酶缺陷，这些酶在胎儿组织中已经存在，并在整个生命过程中继续合成。这些“家用酶”的缺陷通常会导致肌肉以及其他器官和组织的功能受损。2.在不同组织中以多分子形式出现的酶的缺陷(同工酶)，这些组织通常在肌肉发生和肌肉成熟期间经历过渡。这种发育调节的过程包括从胎儿肌肉中存在的一种或多种同工酶逐渐转变为肌肉特有的形式，这种形式持续整个出生后的生活。
There are nine known hereditary enzyme defects of glycogen metabolism and glycolysis affecting skeletal muscle. “Metabolic myopathie” can be classified into two main groups: 1. Deficiencies of enzymes that occur in single molecular forms which are already present in fetal tissues and continue to be synthesized throughout life. Defects of these “household enzymes” usually cause functional impairment of muscle, as well as other organs and tissues. 2. Deficiencies of enzymes that occur in multi-molecular forms in different tissues (isozymes) which normally undergo transitions during myogenesis and muscle maturation. This developmentally-regulated process involves a gradual shift from one or more isozymes present in fetal muscle, to a muscle-specific form, which persists throughout post-natal life.