Fucosidosis: detection of the carrier state in peripheral blood leukocytes.

The Journal of Pediatrics
N G BeratisK Hirschhorn

Abstract

We have utilized the fluorogenic substrate 4-methylumbelliferyl-alpha-L-fucoside to measure the activity of alpha-L-fucosidase in white blood cells and serum. We have compared the findings with those using the P-nitrophenyl derivative. pH activity curves showed two major peaks of activity in leukocyte lysates, with different specificities to these substrates. alpha-L-Fucosidase activity was determined in peripheral leukocytes. Isolated mononuclear cells (mainly lymphocytes), and granulocytes in 21 members of a family in which fucosidosis had occurred and in normal control subjects. The activity in the leukocytes, lymphocytes, and granulocytes of the normal subjects was 300.7 +/- 79.8, 190.1 +/- 43.9, and 281.9 +/- 73.1 nmoles 4-methylumbelliferone/mg protein/hour with the fluorogenic substrate, and 150.0 +/- 31.8, 154.8 +/- 21.0, and 148.3 +/- 48.3 nmoles p-nitrophenol/mg protein/hour with the colorigenic substrate, respectively. No activity was detected in the patients' cells with the colorigenic substrate, whereas with the fluorogenic substrate the apparent activity varied from 0.5 to 1.1. In the lymphocytes of both of the patients' parents, two grandparents, and six other potential carriers, the activity fell between the nor...Continue Reading

References

May 1, 1975·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·P W BrillK Hirschhorn
Jan 1, 1988·Immunogenetics·A J DayR B Sim
Nov 3, 1973·Lancet·R GattiP Durand
Dec 15, 1973·Lancet·B G KousseffK Hirschhorn
Jun 1, 1968·Lancet·F Van Hoof, H G Hers
May 1, 1974·The Journal of Pediatrics·C BorroneP Durand
Dec 1, 1968·European Journal of Biochemistry·F Van Hoof, H G Hers
Jan 1, 1973·The Tohoku Journal of Experimental Medicine·I MatsudaI Hayata
Nov 20, 1974·Clinica Chimica Acta; International Journal of Clinical Chemistry·B M TurnerK Hirschhorn
Aug 30, 1974·Clinica Chimica Acta; International Journal of Clinical Chemistry·D Robinson, R Thorpe
Jul 1, 1972·The Journal of Experimental Medicine·K ZielkeJ S O'Brien
Jul 14, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·G Y WiederschainE L Rosenfeld
Sep 14, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·D Robinson, R Thorpe
Sep 28, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·I MatsudaY Oka
Aug 20, 1971·Biochemical and Biophysical Research Communications·G Y Wiederschain, E L Rosenfeld
Jul 8, 1971·The New England Journal of Medicine·G Dawson, J W Spranger

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Citations

Jan 1, 1977·Pediatric Radiology·F A LeeJ L Gwinn
Jan 1, 1987·Journal of Inherited Metabolic Disease·F H HerrmannJ Hadlich
Jan 1, 1990·Journal of Inherited Metabolic Disease·P T OzandS B Subramanyam
Jan 2, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·J A Alhadeff, A J Janowsky
Mar 1, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·J Butterworth, G J Guy
Oct 1, 1976·The Journal of Pediatrics·P DurandR Gatti
Jan 1, 1979·American Journal of Medical Genetics·R D Jolly, R J Desnick
Jan 1, 1978·American Journal of Medical Genetics·N G Beratis, K Hirschhorn
Apr 1, 1987·American Journal of Medical Genetics·P A WoodH J Baker
Jan 1, 1991·American Journal of Medical Genetics·P J WillemsJ S O'Brien
Nov 1, 1980·Clinical Genetics·H C SchoonderwaldtC H de Bruyn

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