GM_1神经节苷脂贮积症是一种神经鞘脂代谢疾病,源于β-半乳糖苷酶缺陷,为常染色体隐性遗传病,我国尚末见报道。兹报告一例,患儿,男,3岁7月,河北昌黎县人,汉族。因两年来智力及运动能力逐渐衰退来诊。患儿一岁半以前智力正常,已会走路,会叫人。一岁半以后不爱说话,流涎,有惊厥。二岁以后对声音过敏。三岁后瘫痪在床,不会说话。曾在天津就诊,才疑诊为粘多糖病。 GM_1 gangliosidosis is a sphingolipid metabolic disease, derived from β-galactosidase deficiency, autosomal recessive disease, yet to be reported in our country. Here is a report, children, male, 3 years old in July, Hebei Changli County, Han nationality. Due to the gradual decline of intelligence and athletic ability in two years. Children with normal intelligence one year and a half ago, already walking, will call people. A year and a half later do not talk, drool, convulsions. After the age of two allergic to the sound. After the age of three paralyzed in bed, can not speak. Visited Tianjin, was suspected of mucopolysaccharidosis.