Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency

The Journal of Clinical Investigation
W N ValentineW S Adams

Abstract

A severe deficiency of a red cell pyrimidine 5'-nucleotidase was found to be associated with hereditary hemolytic anemia in four members of three kindreds. The syndrome was characterized by marked increases above normal in red cell basophilic stippling, total nucleotides, and GSH and by a fairly severe deficiency of ribosephosphate pyrophosphokinase (EC 2.7.6.1.). Patient erythrocytes uniquely contained large amounts of pyrimidine 5'-ribonucleotides. In earlier studies, these were erroneously considered to be adenosine phosphates, since all previous investigations of the nucleotides of human red cells and reticulocytes have shown 97% or more to contain adenine. Total nucleotides in patient cells were present in amounts 3-6 times greater than normal, and approximately 80% contained pyrimidine. The ultraviolet spectral curves of deproteinized red cell extracts exhibited a shift in maximum absorbance from the usual 256-257 nm to approximately 266-270 nm, and absorbance at 250, 270, 280, and 290 nm, expressed as a ratio of that at 260 nm, differed greatly from normal. The spectral characteristics of extracts provide the basis of a readily performed screening procedure, which does not require enzyme assay. The nucleotidase activity ...Continue Reading

References

Jan 5, 1967·The New England Journal of Medicine·W N ValentineJ L Naiman
Mar 1, 1956·Archives of Biochemistry and Biophysics·K K TSUBOI, P B HUDSON
Jun 1, 1961·Journal of Molecular Biology·F JACOB, J MONOD
Feb 1, 1964·The Journal of Clinical Investigation·G A KOUTRASW N Valentine
Feb 4, 1965·The New England Journal of Medicine·A S SCHNEIDERH L HEINS
Feb 3, 1965·Biochemical and Biophysical Research Communications·G J BREWER
Sep 1, 1959·Archives of Biochemistry and Biophysics·G C MILLS, L B SUMMERS

Citations

Jan 1, 1979·Human Genetics·A KahnJ C Dreyfus
Jan 1, 1985·International Archives of Occupational and Environmental Health·B Mohammed-BrahimR Lauwerys
Jan 1, 1992·International Archives of Occupational and Environmental Health·M IchibaK Mori
Jan 1, 1990·International Archives of Occupational and Environmental Health·M Ichiba, K Tomokuni
Jan 1, 1990·Journal of Inherited Metabolic Disease·D A HopkinsonE H Harley
Sep 6, 2007·Journal of Structural and Functional Genomics·George N PhillipsSimon N Twigger
Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Jul 1, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A Buc, J C Kaplan
Aug 15, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·P H EllimsM B Van der Weyden
Apr 17, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A Buc, J C Kaplan
May 16, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H van GennipS K Wadman
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A BucA Najman
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H FujiiK Nomura
Dec 8, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y IshidaA Kibe
Jan 7, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A EricsonC H de Verdier
May 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A HironoS Miwa
Oct 31, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A EricsonM Seip
Jul 29, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·L R Solomon
Jan 15, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·C G AdairM G Nelson
Sep 29, 1989·Clinica Chimica Acta; International Journal of Clinical Chemistry·D de KorteD Roos
Dec 16, 1991·Clinica Chimica Acta; International Journal of Clinical Chemistry·R SakumaA Tsuji
Sep 15, 1995·European Journal of Pharmacology·Y InoueT Kaneko
Jan 1, 1981·The International Journal of Biochemistry·R C Smith, P A Teer
Jun 21, 2005·Pharmacology & Therapeutics·Sally Anne HunsuckerJozef Spychala
Jun 4, 1999·Trends in Pharmacological Sciences·G P Connolly, J A Duley
Feb 6, 2003·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·S HokariT Komoda
Sep 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·J D TorranceE Beutler
Nov 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·T KondoE Beutler
Feb 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·M H El Kouni, S Cha
Jan 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·M S SwansonR S Markin
May 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·D E PagliaB J Rauth
Jan 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D E PagliaR A Brockway
Dec 12, 2012·The Journal of Biological Chemistry·Juliane BuschmannElmar Wahle
Sep 1, 1990·Archives of Environmental Health·T SakaiK Ushio
Mar 23, 2011·Current Opinion in Hematology·Paul A Ney
Jan 1, 1979·Veterinary Clinical Pathology·J W George, J R Duncan
Apr 1, 1990·Journal of Clinical Pathology·A PagliucaA J Bellingham
Oct 1, 1988·British Journal of Industrial Medicine·M Ichiba, K Tomokuni
Nov 1, 1978·The Journal of Clinical Investigation·R RosaJ Rosa
Mar 1, 1986·The Journal of Clinical Investigation·F BontempsH G Hers
Jun 20, 2007·Nihon eiseigaku zasshi. Japanese journal of hygiene·Hyogo Horiguchi
Jan 1, 1989·Journal of Inherited Metabolic Disease·D de KorteD Roos
Jan 1, 1980·Hemoglobin·W N Valentine, D E Paglia
Jan 1, 1980·Hemoglobin·W N Valentine, D E Paglia
Apr 14, 2006·British Journal of Haematology·A ZanellaGiovanna Valentini
Dec 1, 1984·Clinical Biochemistry·J C Dreyfus, A Kahn
Aug 1, 1986·British Journal of Haematology·N A Lachant, K R Tanaka
Mar 1, 1984·British Journal of Haematology·J L Vives CorronsA Ester
Aug 1, 1980·British Journal of Haematology·J D TorranceT Jenkins
Mar 1, 1980·British Journal of Haematology·J E Lieberman, E C Gordon-Smith
Jan 1, 1983·British Journal of Haematology·P J Crowther, M N Cauchi
Feb 13, 2003·British Journal of Haematology·D C ReesA M Marinaki
Aug 29, 2012·Journal of Molecular Biology·Christina L GroboskyEduard Bitto
Jan 8, 2004·The Journal of Veterinary Medical Science·Mohammad Alamgir HossainYoshimitsu Maede
Mar 26, 2003·The Journal of Veterinary Medical Science·Mohammad Alamgir HossainYoshimitsu Maede
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons
Jun 1, 1982·Biochemical Medicine·E Beutler, C West
Jul 4, 2001·The Journal of Biological Chemistry·S AllegriniM G Tozzi
Sep 1, 1986·Journal of Biochemical Toxicology·C KonantakietiR T Louis-Ferdinand
Jan 1, 1985·Annals of the New York Academy of Sciences·D E Paglia, W N Valentine
Nov 1, 1979·British Journal of Haematology·J D Torrance, D Whittaker
Jun 1, 1980·Jinrui idengaku zasshi. The Japanese journal of human genetics·S Miwa
Jan 1, 1984·American Journal of Industrial Medicine·B D ChesonR C Webber
Sep 1, 1981·American Journal of Hematology·W N Valentine, D E Paglia
Jan 1, 1981·American Journal of Hematology·D E PagliaW N Valentine
Jan 1, 1981·American Journal of Hematology·R RosaJ Rosa
Jan 1, 1979·American Journal of Hematology·S Miwa
Jan 1, 1978·American Journal of Hematology·A ZanellaG Sirchia
Sep 1, 1987·American Journal of Hematology·T KondoS Miwa
Jul 1, 1984·American Journal of Hematology·W N ValentineD E Paglia
Jul 1, 1985·American Journal of Hematology·S Miwa, H Fujii
Nov 1, 1995·European Journal of Haematology·J L Vives CorronsM A Calvo
Jan 1, 1981·American Journal of Hematology·S MiwaT Toyoda
May 5, 2006·The Journal of Biological Chemistry·Eduard BittoGeorge N Phillips
Jan 10, 2018·Frontiers in Physiology·Martina MorasMariano A Ostuni

Related Concepts

Adenosine Triphosphate, Chromium Ammonium Salt
Anemia, Hemolytic, Congenital
Basophils
Cytosine Nucleotides
Erythrocytes
Nucleosidases
Phosphoglycerate KINASE
Phosphotransferases
Purine-Pyrimidine Metabolism, Inborn Errors
Pyrimidine Nucleotides

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