神经节苷脂病
泰-萨克斯病
己糖胺酶
外显子
突变
桑德霍夫病
内分泌学
化学
遗传学
内科学
生物
医学
酶
生物化学
基因
疾病
作者
Pierre Rondot,Ruth Navon,Bruno Eymard,M Fardeau,Turpin Jc,M. Lefèvre,N Bathien,Yanling Wu,N Baumann
出处
期刊:PubMed
日期:1997-03-01
卷期号:153 (2): 120-3
被引量:2
摘要
GM2 gangliosidosis are caused by a beta-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity. We report three cases which have been considered for some time as Kugelberg-Welander disease. beta-hexosaminidase A was determined with the sulfated synthetic substrate, 4-méthylumbelliferyl-N-acetylglucosamine 6-sulfate (4-MUGS), which allowed the diagnosis. Two of these cases from one family had normal values of hexosaminidase A in serum as found in the B1 variant. Compound mutations were detected. The B1 variants had a classical B1 mutation (G533-->A) and a new mutation located on exon 11. The patient of the second family had the classical mutation of adult GM2 gangliosidosis (Gly269-->Ser) and a new mutation on exon 1, at the initiation codon.
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