GENERALIZED GANGLIOSIDOSIS
GENERALIZED GANGLIOSIDOSIS
复制标题
DOI：
10.1016/s0022-3476(69)80387-2
复制
发表时间：
1969-01-01
影响因子：
5.1
通讯作者：
OBRIEN, J
中科院分区：
文献类型：
--
作者：
OBRIEN, J
全身性神经节脂病是一种新发现的贮积性疾病，其临床特征是严重的脑变性导致两岁死亡，脑和内脏中储存神经节脂苷以及内脏中储存粘多糖，以及类似于Hurler综合征的严重骨异常。遗传学研究表明该病具有泛民族分布，可能是常染色体隐性遗传。神经节苷脂与神经节苷脂GM1相同；粘多糖在结构上与硫酸角蛋白聚糖相似。利用神经节苷脂和粘多糖积累作为底物，证明了β-半乳糖苷酶的严重缺乏。组织和体液的酶测定可能有助于确定纯合子状态。
Generalized gangliosidosis is a newly described storage disease characterized by a clinical syndrome of severe cerebral degeneration leading to death by the age of two years, the storage of a ganglioside in brain and viscera and of a mucopolysaccharide in viscera, and severe bony abnormalities which resemble those seen in Hurler's syndrome. Genetic studies reveal the disorder to be pan-ethnic in distribution, probably transmitted as an autosomal recessive trait. The ganglioside is identical to ganglioside GM1; the mucopolysaccharide is structurally similar to keratan sulfate. A profound deficiency of β-galactosidase has been demonstrated using both the ganglioside and the mucopolysaccharide which accumulate as substrates. Enzyme assays of tissues and body fluids may be helpful in identifying the homozygote state.