Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1977 May;29(3):287–293.

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

J C Dreyfus, L Poenaru, M Vibert, N Ravise, J Boue
PMCID: PMC1685303  PMID: 868875

Abstract

A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.

Full text

PDF
287

Images in this article

289Fig. 1
on p.289
290Fig. 3
on p.290

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beutler E., Kuhl W. Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes. Nature. 1975 Nov 20;258(5532):262–264. doi: 10.1038/258262a0. [DOI] [PubMed] [Google Scholar]
  2. Boué J., Boué A. L'intérêt en diagnostic prénatal des techniques nouvelles d'identification chromosomique dans des translocations et une aneusomie de recombinaison. Nouv Presse Med. 1973 Dec;2(46):3097–3102. [PubMed] [Google Scholar]
  3. Dreyfus J. C., Poenaru L. Le diagnostic enzymatique dans les maladies lysosomiales et plus particulierement dans les sphingolipidoses. Arch Fr Pediatr. 1975 Jun-Jul;32(6):503–514. [PubMed] [Google Scholar]
  4. Dreyfus J. C., Poenaru L., Svennerholm L. Absence of hexosaminidase A and B in a normal adult. N Engl J Med. 1975 Jan 9;292(2):61–63. doi: 10.1056/NEJM197501092920201. [DOI] [PubMed] [Google Scholar]
  5. Hooghwinkel G. J., Veltkamp W. A., Overdijk B., Lisman J. J. Electrophoretic separation of -N-acetylhexosaminidases of human and bovine brain and liver and of Tay-Sachs brain tissue. Hoppe Seylers Z Physiol Chem. 1972 May;353(5):839–841. [PubMed] [Google Scholar]
  6. Huddleston J. F., Lee G., Robinson J. C. Electrophoretic characterization of glucose dehydrogenase, beta-glucuronidase, and N-acetyl-beta-glucosaminidase from placenta and gestational serum. Am J Obstet Gynecol. 1971 Apr 1;109(7):1017–1022. doi: 10.1016/0002-9378(71)90283-3. [DOI] [PubMed] [Google Scholar]
  7. Ikonne J. U., Rattazzi M. C., Desnick R. J. Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet. 1975 Sep;27(5):639–650. [PMC free article] [PubMed] [Google Scholar]
  8. Navon R., Padeh B., Adam A. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease. Am J Hum Genet. 1973 May;25(3):287–293. [PMC free article] [PubMed] [Google Scholar]
  9. O'Brien J. S., Okada S., Chen A., Fillerup D. L. Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med. 1970 Jul 2;283(1):15–20. doi: 10.1056/NEJM197007022830104. [DOI] [PubMed] [Google Scholar]
  10. Okada S., O'Brien J. S. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. doi: 10.1126/science.165.3894.698. [DOI] [PubMed] [Google Scholar]
  11. Poenaru L., Dreyfus J. C. Electrophoretic study of hexosaminidases. Hexosaminidase C. Clin Chim Acta. 1973 Feb 12;43(3):439–442. doi: 10.1016/0009-8981(73)90486-5. [DOI] [PubMed] [Google Scholar]
  12. Robinson D., Stirling J. L. N-Acetyl-beta-glucosaminidases in human spleen. Biochem J. 1968 Apr;107(3):321–327. doi: 10.1042/bj1070321. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Sandhoff K., Harzer K., Wässle W., Jatzkewitz H. Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem. 1971 Dec;18(12):2469–2489. doi: 10.1111/j.1471-4159.1971.tb00204.x. [DOI] [PubMed] [Google Scholar]
  14. Srivastava S. K., Beutler E. Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases. J Biol Chem. 1974 Apr 10;249(7):2054–2057. [PubMed] [Google Scholar]
  15. Vidgoff J., Buist N. R., O'Brien J. S. Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman. Am J Hum Genet. 1973 Jul;25(4):372–381. [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES