泰-萨克斯病(英语:Tay-Sachs),也称为家族黑蒙性痴呆症,由英国眼科医生华伦·泰伊Waren Tay)和美国神经病学医生伯纳德·萨克斯Bernard Sachs)的姓氏命名。患者细胞内的溶酶体缺少氨基己糖酯酶A,导致神经节甘脂GM2积累,影响细胞功能,造成精神性痴呆

Tay–Sachs
Cherry-red spot as seen in Tay–Sachs disease: the fovea's center appears bright red because it is surrounded by a milky halo.
类型胞溶酶体贮积症GM2 gangliosidosis[*]eye degenerative disease[*]疾病
分类和外部资源
医学专科医学遗传学
OMIM272800
DiseasesDB12916
MedlinePlus001417
eMedicine951943
Orphanet845
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参考资料

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  • PLoS Genet. 2012 Sep;8(9):e1002943. doi: 10.1371/journal.pgen.1002943. Epub 2012
  • Sep 20.Characterization of inducible models of tay-sachs and related disease.
  • Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.

外部链接

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