桑德霍夫病：黎巴嫩一种常见的婴儿型GM2神经节苷脂贮积症。
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
作者信息
Der Kaloustian V M, Khoury M J, Hallal R, Idriss Z H, Deeb M E, Wakid N W, Haddad F S
出版信息
Am J Hum Genet. 1981 Jan;33(1):85-9.
Abstract
All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and proved to have Sandhoff disease. In two other cases, parents were tested and found to be Sandhoff carriers. These results indicate that Sandhoff disease is relatively prevalent in Lebanon and that it may represent the more common form of infantile GM2 gangliosidosis in this country.
摘要
回顾了在22年期间（1957 - 1979年），黎巴嫩贝鲁特美国大学医院临床上诊断为泰-萨克斯病的所有病例。在总共15例病例中，7例进行了血清己糖胺酶检测，结果证实患有桑德霍夫病。另外2例中，对其父母进行检测后发现为桑德霍夫病携带者。这些结果表明，桑德霍夫病在黎巴嫩相对普遍，并且可能是该国婴儿型GM2神经节苷脂沉积症更常见的形式。
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