Corpus ID: 34959408

Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

@article{Lowden1979EvidenceFA,
  title={Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.},
  author={J. Lowden},
  journal={American journal of human genetics},
  year={1979},
  volume={31 3},
  pages={
          281-9
        }
}
  • J. Lowden
  • Published 1979
  • Medicine
  • American journal of human genetics
Patients with Sandhoff disease have less than 5% of normal levels of serum or tissue hexosaminidase activity. They are thought to have a defect in the structural gene for the beta chain of hexosaminidase (HEX). Heterozygotes for Sandhoff disease have approximately 50% of the total serum HEX activity of normals and more than 75% of the HEX is heat-labile. In normals, only 55%--65% of serum HEX is heat-labile. Serum HEX separates into three forms on DEAE cellulose chromatography: HEX A, a… Expand