β-Hexosaminidase isoenzyme profiles in serum, plasma, platelets and mononuclear, polymorphonuclear and unfractionated total leukocytes

Clinical Biochemistry

Volumn 38, Issue 10, 2005, Pages 938-942

  Casal, J Antonio ^a   Cano, Ernesto ^b   Tutor, J Carlos ^a  

^a Hospital Clinico Universitario   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

hexosaminidase isoenzymes; Diabetes; Mononuclear; Plasma; Platelets; Polymorphonuclear; Sandhoff's Disease; Serum; Tay Sachs disease; Total leukocytes

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; ISOENZYME;

ARTICLE; BLOOD CELL; BLOOD SAMPLING; CELL LYSATE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME LOCALIZATION; FEMALE; HUMAN; HUMAN CELL; LEUKOCYTE COUNT; MALE; MONONUCLEAR CELL; NEUTROPHIL; PLASMA; POLYMORPHONUCLEAR CELL; PRIORITY JOURNAL; SERUM; STATISTICAL SIGNIFICANCE; THROMBOCYTE;

BETA-N-ACETYLHEXOSAMINIDASE; BLOOD PLATELETS; DIABETES MELLITUS; FEMALE; HUMANS; ISOENZYMES; LEUKOCYTES; LEUKOCYTES, MONONUCLEAR; MALE; NEUTROPHILS; PLASMA; PREGNANCY; SENSITIVITY AND SPECIFICITY; SERUM; TAY-SACHS DISEASE;

EID: 24944574418     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.05.016     Document Type: Article

References (27)

1. R.A. Gravel, M.M. Kaback, R.L. Proia, K. Sandhoff, K. Suzuki, and K. Suzuki The GM2 gangliosidoses C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease eighth ed. 2001 McGraw-Hill Medical Publishing Division New York 3827 3876
2. M.R. Natowicz, and E.M. Prence Heterozygote screening for Tay-Sachs disease: past successes and future challenges Curr. Opin. Pediatr. 8 1996 625 629
3. P. Hechtman, and F. Kaplan Tay-Sachs disease screening and diagnosis: evolving technologies DNA Cell Biol. 8 1993 651 665
4. E.C. Landels, I.H. Ellis, M. Bobrow, and A.H. Fenson Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates J. Med. Genet. 28 1991 101 109
5. A. Isaksson, B. Hultberg, P. Masson, E. Landels, and A. Fenson Enzyme immunoassay of β-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity Clin. Chem. 39 1993 1412 1415
6. B. Hultberg, and A. Isaksson Isoenzyme pattern of serum β-hexosaminidase in liver disease, alcohol intoxication and pregnancy Enzyme 30 1983 166 171
7. Z.M. Prence, C.A. Jerome, B.L. Triggs-Raine, and M.R. Natowicz Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background J. Med. Screen. 4 1997 133 136
8. S. Nakagawa, S. Kumin, D. Fox, and H.M. Nitowsky Human hexosaminidase isoenzymes: III. Distribution and activity of isoenzymes in peripheral blood leukocytes and platelets J. Lab. Clin. Med. 91 1978 922 928
9. J.A. Casal, A. Chabás, and J.C. Tutor Thermodynamic determination of β-hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations Am. J. Med. Genet. 116A 2003 229 233
10. F. Isman, G.E. Palomaki, and M.R. Natowicz Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes Clin. Chem. 51 2005 646 649
11. S. Nakagawa, S. Kunin, P. Chandra, and H.M. Nitowsky Human hexosaminidase isoenzymes. Assay of platelets activity for heterozygote identification during pregnancy Clin. Chim. Acta 88 1978 249 256
12. J.A. Casal, L.F. Pérez, and J.C. Tutor Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant Am. J. Clin. Pathol. 119 2003 684 688
13. S. Levy-Toledano, J. Maclouf, P. Bryon, E. Savarian, R.M. Hardisty, and J.P. Caen Human platelet activation in the absence of aggregation: a calcium-dependent phenomenon independent of thromboxane formation Blood 59 1982 1078 1085
14. L.F. Pérez, and J.C. Tutor Assay of β-N-acetylhexosaminidase isoenzymes in different biological specimens by means of determination of their activation energies Clin. Chem. 44 1998 226 231
15. L.F. Pérez, H.M. Ribeiro, J.A. Casal, R.A. Pinto, M.C. Sá Miranda, and J.C. Tutor Thermodynamic characterisation of the mutated isoenzyme A of β-N-acetylhexosaminidase in GM2-gangliosidoses B1 variant Clin. Chim. Acta 285 1999 45 51
16. A. Lombardo, L. Caimi, S. Marchesini, G.C. Goi, and G. Tettamanti Enzymes of lysosomal origin in plasma and serum: assay conditions and parameters influencing the assay Clin. Chim. Acta 108 1980 337 346
17. G. Leoncini, F. Balestrero, and M. Maresca Lysosomal enzymes in human platelets Cell Biochem. Funct. 3 1985 121 125
18. G.D. Vladutiu, C.A. Dangelmaier, V. Amigone, B.A. Van Oost, and H. Holmsen High and low-uptake forms of β-hexosaminidase in human platelets. Selective retention of the high-uptake form during stimulation with thrombin Biochim. Biophys. Acta 802 1984 435 441
19. B.A. Van Oost, J.B. Smith, H. Holmsen, and G.D. Vladutiu Lysosomotropic agents selectively potentiate thrombin-induced acid hydrolase secretion from platelets Proc. Natl. Acad. Sci. 82 1985 2374 2378
20. C. Emiliani, S. Martino, A. Orlacchio, R. Vezza, G.G. Nenci, and P. Gresele Platelet glycohydrolase activities: characterization and release Cell Biochem. Funct. 13 1995 31 39
21. S. Ciferri, C. Emiliani, G. Guglielmi, A. Orlacchio, G.G. Nenci, and P. Gresele Platelet release their lysosomal content in vivo in humans upon activation Thromb. Haemostasis 83 2000 157 164
22. e Colloque de Pont-à-Mousson 1993 Jhon Libbey Eurotex Paris 309 312
23. C.G. Fraser Inherent biological variation and reference values Clin. Chem. Lab. Med. 42 2004 758 764
24. S. Nakagawa, S. Kumin, and H.M. Nitowsky Studies on the activities and properties of lysosomal hydrolases in fractionated populations of human peripheral blood cells Clin. Chim. Acta 101 1980 33 44
25. S. Nakagawa, S. Kumin, G. Sachs, and H.M. Nitowsky Heterozygote detection of type I Gaucher disease using blood platelets Clin. Chim. Acta 118 1982 99 107
26. E.M. Prence, M.R. Natowicz, and I. Zalewski Unusual thermolability properties of leukocyte β-hexosaminidase: implications in screening for carriers of Tay-Sachs disease Clin. Chem. 39 1993 1811 1814
27. E.M. Prence, I. Zalewski, and M.R. Natowicz Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications Am. J. Med. Genet. 65 1996 320 324