Muñoz-Blanco J L
Servicio de Neurología, Hospital General Universitario Gregorio Marañón, Madrid, España.
Rev Neurol. 1998 Apr;26 Suppl 1:S72-80.
The lipid storage myopathies are produced by a biochemical defect that directly or indirectly interferes with the metabolism of fatty acids in the muscle fiber. The oxidation of fatty acids is performed by enzymes lying in the mitochondrial membranes and matrix. The phenotype is very similar between the different biochemical defects, presenting with two large groups: One with early-onset, metabolic crisis and multisystemic failure, and one with late-onset, predominant myopathy and myoglobinuria. The diagnosis of these disorders has advanced significatively in the last ten years, permitting their classification at molecular level according to the biochemical and genetic defect.
脂质贮积性肌病是由一种生化缺陷引起的，该缺陷直接或间接干扰肌纤维中脂肪酸的代谢。脂肪酸的氧化由位于线粒体内膜和基质中的酶来完成。不同生化缺陷之间的表型非常相似，主要分为两大类：一类为早发型，伴有代谢危机和多系统功能衰竭；另一类为晚发型，以肌病和肌红蛋白尿为主。在过去十年中，这些疾病的诊断有了显著进展，能够根据生化和基因缺陷在分子水平上对其进行分类。
