Literature DB >> 6226458

Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.

W Fuchs, R Navon, M M Kaback, H Kresse.   

Abstract

A sulphated chromogenic compound, p-nitrophenyl-6-sulpho-2-acetamido-2-deoxy-beta-D-glucopyranoside, which can be hydrolysed enzymatically to p-nitrophenol and the sulphated amino sugar, was used as a substrate for the determination of activity of beta-N-acetylhexosaminidase isoenzymes in human serum. The sera of six Tay-Sachs patients lacking isoenzyme A and heat-inactivated control serum exhibited 6% of the mean normal enzyme activity of 1.32 U/l (1-s range = 1.07-1.57 U/l). In 10 obligate carriers of the Tay-Sachs gene the enzyme activity was 52% (1-s range = 45-60%) of the mean normal value. Therefore, by using the sulphated chromogenic substrate Tay-Sachs disease can be diagnosed enzymatically in a simple one-step procedure, but the 2-s activity ranges of heterozygotes and normals overlap. The assay is not absolutely specific for isoenzyme A of beta-N-acetylhexosaminidase, because the substrate can be hydrolysed to a certain extent by beta-N-acetylhexosaminidase I.

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Year:  1983        PMID： 6226458     DOI： 10.1016/0009-8981(83)90269-3

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  9 in total

1.  Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.

Authors:  E C Landels; I H Ellis; M Bobrow; A H Fensom
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

Authors:  Y Ben-Yoseph; J E Reid; B Shapiro; H L Nadler
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

3.  Intermediate forms of human beta-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate.

Authors:  T Beccari; C Emiliani; R Hosseini; A Orlacchio; J L Stirling
Journal:  Biochem J       Date:  1987-06-15       Impact factor: 3.857

4.  Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.

Authors:  K Inui; T Yutaka; S Okada; H Yabuuchi; D A Wenger; R J Desnick
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates.

Authors:  H J Kytzia; U Hinrichs; K Sandhoff
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.

Authors:  S S Raghavan; A Krusell; J Krusell; T A Lyerla; E H Kolodny
Journal:  Am J Hum Genet       Date:  1985-11       Impact factor: 11.025

7.  Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.

Authors:  J Bayleran; P Hechtman; E Kolodny; M Kaback
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

8.  Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate.

Authors:  T Beccari; A Orlacchio; J L Stirling
Journal:  Biochem J       Date:  1988-06-01       Impact factor: 3.857

Review 9.  Ganglioside biochemistry.

Authors:  Thomas Kolter
Journal:  ISRN Biochem       Date:  2012-12-19
  9 in total

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