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大脑脂质沉积症包括各种神经节苷脂病、各型白质营养不良、高雪氏病和尼曼-匹克氏病。除嗜苏丹红型白质营养不良为伴性隐性遗传外,其余全属常染色体隐性遗传。大多在婴幼儿期发病,表现为运动和智能发育落后,伴有反复惊厥和进行性张力改变或有肝脾增大,诊断非常困难。由于近年对这些疾病的生化研究日益发展,为诊断提供了依据,并为今后寻求有效疗法创造了条件。Brady(1977)对此曾发表一篇复习资料。本文根据Malone(1976)的一篇综述、结合近年有关酶学研究的一些进展,作一介绍。
Brain lipidosis includes various gangliosideoses, various types of white matter dyskeratosis, Gaucher’s disease and Niemann-Pick’s disease. In addition to addicted to Sudan-type white matter malnutrition associated with recessive inheritance, the rest are all autosomal recessive. Most of the incidence in infancy and early childhood, manifested as backward development of exercise and intelligence, accompanied by repeated convulsions and progressive changes in tension or increased liver and spleen, the diagnosis is very difficult. Due to the increasing development of biochemical research on these diseases in recent years, they provide the basis for diagnosis and create the conditions for seeking effective therapies in the future. Brady (1977) has published a review of this information. Based on a review by Malone (1976), this article presents some recent advances in enzyme research.