Mizuguchi M, Kamoshita S
Department of Pediatrics, Faculty of Medicine, University of Tokyo.
Nihon Rinsho. 1993 Nov;51(11):2919-23.
A variety of inheritable metabolic disorders produce movement disorders. A lists of conditions associated with tremor, athetosis, chorea, dystonia and myoclonus are presented as a guide for the differential diagnosis of such abnormal involuntary movements. The list includes aminoacidopathies, lipidoses, mucopolysaccharidoses, mucolipidoses, organic acidemias, mitochondrial cytopathies and disorders of carbohydrate, purine, and metal metabolism. Clinical, pathological and biochemical features of movement disorders of three typical examples, Wilson's disease, Lesch-Nyhan syndrome and glutaric acidemia type 1, are described.
多种遗传性代谢紊乱会导致运动障碍。本文列出了与震颤、手足徐动症、舞蹈症、肌张力障碍和肌阵挛相关的病症,作为此类异常不自主运动鉴别诊断的指南。该列表包括氨基酸病、脂质沉积症、粘多糖贮积症、粘脂贮积症、有机酸血症、线粒体细胞病以及碳水化合物、嘌呤和金属代谢紊乱。文中描述了三个典型例子——威尔逊病、莱施-奈恩综合征和1型戊二酸血症——运动障碍的临床、病理和生化特征。