Vorgerd M, Deschauer M
Neurologische Universitätsklinik, Muskelzentrum Ruhrgebiet, Kliniken Bergmannsheil, Ruhr-Universität Bochum, Bürkle-de-la Camp-Platz 1, 44789 Bochum, Deutschland.
Z Rheumatol. 2013 Apr;72(3):242-54. doi: 10.1007/s00393-012-1082-9.
Metabolic myopathies include a broad group of diseases involving inherited enzyme defects in the various metabolic pathways and skeletal musculature. They show an extensive phenotypic variability of symptoms and different ages of manifestation. Symptoms often included intolerance to duress or permanent paresis. Some forms of metabolic myopathy, in particular mitochondriopathy, are associated with multsystemic organ participation. The diagnostics must be adjusted to individual cases and carried out in stages. Primary investigations should include blood parameters (e.g. creatine kinase measurement, muscle load tests and determination of the acylcarnitine spectrum) and a second step includes muscle biopsy for histological and enzyme investigations and special molecular genetic tests although the causative enzyme defect cannot be clarified in every case. On the other hand by means of a thorough investigation it is particularly important in patients with load intolerance to differentiate between other causes, in particular psychosomatic diseases. If this is not done there is a danger of classifying the symptoms of a metabolic myopathy as a somatoform disorder. Therapy is mostly symptom-oriented as Pompe disease is the only one which can be treated with enzyme replacement therapy.
代谢性肌病包括一大类疾病，涉及各种代谢途径和骨骼肌中的遗传性酶缺陷。它们表现出广泛的症状表型变异性和不同的发病年龄。症状通常包括不耐受压力或永久性麻痹。某些形式的代谢性肌病，特别是线粒体病，与多系统器官受累有关。诊断必须根据个体情况进行分阶段实施。初步检查应包括血液参数（如肌酸激酶测量、肌肉负荷试验和酰基肉碱谱测定），第二步包括进行肌肉活检以进行组织学和酶学检查以及特殊的分子遗传学检测，尽管并非每种情况都能明确致病酶缺陷。另一方面，通过全面调查，对于不耐受负荷的患者，区分其他病因，尤其是身心疾病尤为重要。如果不这样做，就有将代谢性肌病的症状归类为躯体形式障碍的风险。治疗大多以症状为导向，因为庞贝病是唯一可用酶替代疗法治疗的疾病。
