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GM1神经节苷脂贮积症源于溶酶体中酸性β-半乳糖苷酶缺陷,为一种常染色体隐性遗传性疾病,我国尚未见报道。兹将一例少年型GM1神经节苷脂贮积症报道如下: 男性患儿,3岁7月,河北昌黎县人,汉族。第一胎足月顺产,出生体重2250g,出生时父母年龄分别为49,39岁,非近亲婚配。因智力、运动能力逐渐衰退两年就诊。患儿一岁半前智力及运动正常,以后逐渐衰退,间有癫痫发作。两岁以后对声音过敏,三岁以后瘫痪,不能说话。曾在天津疑诊为粘多糖病。患
GM1 gangliosidosis originated from lysosomal acid β-galactosidase deficiency, is an autosomal recessive genetic disease, our country has not been reported. A case of juvenile GM1 ganglioside storage disease is reported as follows: Male children, 3 years old in July, Hebei Changli County, Han nationality. The first full-term birth of the first birth, birth weight 2250g, at birth, the parents were 49,39 years of age, non-relatives of marriage. Due to intelligence, athletic ability gradually decline two years treatment. Children aged one and a half years before normal intelligence and exercise, then gradually decline, between seizures. After two years of allergy to the sound, paralyzed after the age of three, can not speak. Suspected of mucopolysaccharidosis in Tianjin. Suffering