Becker L E
Department of Pathology, Hospital for Sick Children, Toronto, Ontario.
Can J Vet Res. 1990 Jan;54(1):1-14.
The spectrum of metabolic neuromuscular disorders is wide. Most inherited metabolic diseases are related to enzyme defects within lysosomes but recent advances emphasize abnormalities of mitochondria, peroxisomes and intermediate filaments. In this overview, organelle pathology is described in the context of both the clinical manifestations and the biochemical and/or molecular aspects of the disease. Among the many clinical presentations of mitochondrial disorders three emerge as distinctive entities: mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms, mitochondrial encephalopathy with ragged-red fibers, and Kearns-Sayre syndrome. Peroxisomal disorders are associated with numerous biochemical defects, the most frequent of which are Zellweger's syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease. Disorders of cytoskeletal proteins are associated with distinctive pathological accumulation of intermediate filaments but are without confirmed evidence of a biochemical defect. Understanding the role that organelle pathology plays in the pathogenesis of cellular disturbance or demise is essential to the elucidation of the pathogenesis of metabolic disorders.
代谢性神经肌肉疾病的范围很广。大多数遗传性代谢疾病与溶酶体内的酶缺陷有关，但最近的进展强调了线粒体、过氧化物酶体和中间丝的异常。在本综述中，细胞器病理学是在疾病的临床表现以及生化和/或分子方面的背景下进行描述的。在线粒体疾病的众多临床表现中，有三种表现为独特的病症：伴有乳酸性酸中毒和类中风症状的线粒体脑病、伴有破碎红纤维的线粒体脑病以及卡恩斯-塞尔综合征。过氧化物酶体疾病与多种生化缺陷相关，其中最常见的是泽尔韦格综合征、新生儿肾上腺脑白质营养不良和婴儿型雷夫叙姆病。细胞骨架蛋白疾病与中间丝的独特病理性积聚有关，但尚无生化缺陷的确切证据。了解细胞器病理学在细胞紊乱或死亡的发病机制中所起的作用对于阐明代谢性疾病的发病机制至关重要。
