Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

@article{Okada1969TaySachsDG,
  title={Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component},
  author={Shintaro Okada and John S. O'brien},
  journal={Science},
  year={1969},
  volume={165},
  pages={698 - 700}
}
Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-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. 
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610 Citations
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610 Citations

Identification of Tay-Sachs Genotypes by Hexosaminidase Analysis of Urine and Tear Samples

The absence of N-acetyl-β-D-hexosaminidase A activity in the body fluids and tissues of patients with Tay-Sachs disease results in the cerebral accumulation of the GM2-ganglioside, which is responsible for all the clinical symptoms and pathological findings in the disease.

Tay-Sachs' retina. Deficiency of acetyl hexosaminidase A.

The chemical differential diagnosis of gangliosidosis and other lipidoses with cherry red spot lesions of the retina is presented and total acetyl hexosaminidase, B-glucosidase and B-galactosid enzyme activities did not differ significantly in Tay-Sachs and control tissues.

Human urinary N-acetyl-β-hexosaminidases

Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.

Tay-Sachs Disease with Altered β-Hexosaniinidase B: A New Variant?

Summary: A 2.5-year-old Japanese girl who showed signs and symptoms compatible with classic Tay-Sachs disease and had altered β-hexosaminidase B and I1 as well as completely deficient…

Chromatographic study of serum hexosaminidase in normal and GM 2-gangliosidosis.

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease.

Tay-Sachs disease--the use of tears for the detection of heterozygotes.

Screening for the detection of persons heterozygous for the causative gene was made possible by the observation that these persons have, on the average, 50 per cent of normal hexosaminidase A activity.

Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

A technique involving successively electrophoresis of denatured proteins, transfer (blotting) onto nitrocellulose, and labelling by appropriate antibodies raised against the dissociated forms of hexosaminidases A and B allows the detection of α and β subunits in crude extracts of normal tissues.

Asialo GM2‐ganglioside in brain fetal Tay‐Sachs disease 1

A qualitatively similar pattern of aminoglycolipid accumulation in the brain in fetal Tay-Sachs disease is reported.
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