Cornelio F, Di Donato S
J Neurol. 1985;232(6):329-40. doi: 10.1007/BF00313831.
After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.
1959年发现肌磷酸化酶缺乏症后，至少已描述了15种因能量底物利用相关酶缺乏引起的肌病。在本综述中，将讨论酶病的两个主要类别，即糖原贮积病和线粒体疾病。临床上，这些酶缺陷类别的患者表现出两种主要综合征：急性复发性肌肉损伤，通常与运动有关，伴有痉挛和/或肌红蛋白尿；进行性肌肉无力和萎缩，最终伴有骨骼肌以外受影响器官的体征。糖原分解缺陷和糖酵解第一步缺陷更常与急性运动不耐受相关，如肌磷酸化酶和磷酸果糖激酶缺乏症，但也可能与进行性肌肉无力和萎缩相关，如酸性麦芽糖酶和脱支酶缺乏症。这些疾病中临床异质性很常见，但仍缺乏对其不同临床表型的生化解释。糖酵解第二步缺陷、磷酸甘油酸激酶、磷酸甘油酸变位酶和乳酸脱氢酶缺乏症最近已被发现，并与运动不耐受相关。尽管有人提出在肌磷酸化酶、脱支酶和酸性麦芽糖酶缺乏症中会发生过度的蛋白质分解代谢，但糖原贮积病中肌肉无力和萎缩的原因仍不清楚。与糖原贮积病相比，线粒体酶缺乏引起的肌病作为一个群体，定义尚不明确。目前认为它们主要分为三组：底物利用缺陷，如肉碱棕榈酰转移酶缺乏症；呼吸链复合物缺陷，如细胞色素c氧化酶缺乏症；磷酸化-呼吸偶联缺陷，如 Luft 病。同样，严重和良性运动不耐受或进行性危及生命的肌病综合征可能是这些疾病的临床表现。需要对这些患者进行详细的肌肉活检生化和形态学研究，以获得明确的诊断和预后，并决定最终的治疗方案。
