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早期的临床与生化学观察 Tay-Sachs病是W.Tay和B.Sachs首先描述的。这种常染色体隐性遗传病是起源于东欧的犹太人中最常见的疾病,其特点是GM_2神经节苷脂蓄积,导致进行性神经肌肉变性。这种病人一般在四岁时死亡。其它与之密切相关的GM_2神经节苷脂沉积病有不同程度的临床表现:有的迅速恶化,特别是Sandhoff病;也有的为晚期发病的少年型,仅仅看到神经逐渐变性。一旦查明蓄积物质的结构,即可弄清多数类脂沉积病的酶缺陷性质。已查明在几乎所有病例中水解复合糖脂末端糖的溶酶体
Early clinical and biochemical observations Tay-Sachs disease was first described by W. Tay and B. Sachs. This autosomal recessive inherited disease is the most common of the Jews originating in Eastern Europe and is characterized by the accumulation of GM2 gangliosides, which leads to progressive neuromuscular degeneration. This patient usually dies at the age of four. Other closely related GM2 ganglioside deposition diseases have varying degrees of clinical manifestations: some rapidly deteriorate, especially Sandhoff’s disease, and others have a late-onset juvenile form, only seeing progressive degeneration of nerves. Once the structure of the accumulated material is identified, the enzyme defect properties of most lipid deposition diseases can be ascertained. The lysosomes that hydrolyze the complex glycolipid end sugar have been identified in almost all cases