Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1969 Aug 15;165(3894):698-700.
doi: 10.1126/science.165.3894.698.

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component

S Okada, J S O'Brien

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component

S Okada et al. Science. .

Abstract

Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both beta-D-N-acetylglucosaminidase and beta-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

PubMed Disclaimer

LinkOut - more resources