Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Female
  • Gene Frequency
  • Hexosaminidases / blood
  • Humans
  • Infant
  • Lebanon
  • Male
  • Pedigree
  • Retrospective Studies
  • Sandhoff Disease / blood
  • Sandhoff Disease / diagnosis*
  • Sandhoff Disease / genetics
  • Tay-Sachs Disease / blood
  • Tay-Sachs Disease / diagnosis*

Substances

  • Hexosaminidases