Hereditary erythrocyte pyrimidine 5′-nucleotidase deficiency: A biochemical, genetic and clinical overview

References

• Hirono A, Forman L, Beutler E. Enzymatic diagnosis in non-spherocytic hemolytic anemia. Medicine (Bait) 1988;67: 110–117.
   PubMed Web of Science ®Google Scholar
• Valentine WN, Fink K, Paglia DE, Harris SR, ad Adams WS. Hereditary hemolytic anaemia with human erythrocyte pyrimidine 5′-nucleotidase deficiency. J Clin Investig 1974;54:866–879.
   PubMed Web of Science ®Google Scholar
• Paglia DE, Valentine WN, Fink K. Lead poisoning. Further observations on erythrocyte pyrimidine-nucleotidase deficiency and intracellular accumulation of pyrimidine nucleotides. J Clin Investig 1977;60:1362–1366.
   PubMed Web of Science ®Google Scholar
• Buc H, Kaplan JC. Red-cell pyrimidine 5′-nucleotidase and lead poisoning. Clin Chim Acta 1978;85:193–196.
   PubMed Web of Science ®Google Scholar
• Rees DC, Duley JA, Marinaki AM. Pyrimidine nucleotidase deficiency. Br J Haematol 2003;120:375–383.
   PubMed Web of Science ®Google Scholar
• Swallow DM, Aziz I, Hopkinson DA, Miwa S. Analysis of human erythrocyte 5′-nucleotidases in healthy individuals and a patient deficient in pyrimidine 5′-nucleotidase. Ann Hum Genet 1983;1:19–23.
   Web of Science ®Google Scholar
• Hirono A, Fujii H, Natori H, Kurokawa I, Miwa S. Chromatographic analysis of human erythrocyte pyrimidine 5′-nucleotidase from five patients with pyrimidine 5′-nucleo-tidase deficiency. Br J Haematol 1987;65: 35–41.
   PubMed Web of Science ®Google Scholar
• Miwa S, Fujii H. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes. Am J Hematol 1996;51:122–132.
   PubMed Web of Science ®Google Scholar
• Vives-Corrons JL. Chronic non-spherocytic haemolytic anae-mia due to congenital pyrimidine nucleotidase deficiency: 25 Years later. Baillieres Best Pract Res Clin Haematol 2000;13:103–118.
   PubMed Web of Science ®Google Scholar
• Kanno H, Fujii H, Miwa S. Physiological significance and molecular genetics of red cell enzymes involved in the ribonucleotide metabolism. Proc Jpn Acad 2002;78:287–292.
   Google Scholar
• Kanno H, Takizawa T, Miwa S, Fujii H. Molecular basis of Japanese variants of pyrimidine 5′-nucleotidase deficiency. Br J Haematol 2004;126:265–271.
   PubMed Web of Science ®Google Scholar
• Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Them SL, Rees DC. Genetic basis of hemolytic anemia caused by pyrimidinenucleotidase deficiency. Blood 2001;97:3327–3332.
   PubMed Web of Science ®Google Scholar
• Paglia DE, Valentine WN. Haemolytic anaemia associated with disorders of the purine and pyrimidine salvage pathways. Clin Haematol 1981;10:81–98.
   PubMedGoogle Scholar
• Beutler E, Baranko PV, Feagler J, Matsumoto F, Miro-Quesdada M, Selby G, Singh P. Hemolytic anemia due to pyrimidine-5′-nucleotidase deficiency: Report of eight cases in six families. Blood 1980;56: 251–255.
   PubMed Web of Science ®Google Scholar
• Beutler E. Red cell metabolism: a manual of biochemical methods. New York, NY: Grune & Stratton, Inc. 1984.
   Google Scholar
• Bianchi V, Spychala J. Mammalian 5′-nucleotidases. J Biol Chem 2003;278:46195–46198.
   PubMed Web of Science ®Google Scholar
• Rampazzo C, Johansson M, Gallinaro L, Ferraro P, Hellman U, Karlsson A, Reichard P, Bianchi V. Mammalian 5′(3′)-deoxyribonucleotidase, cDNA cloning, and overexpression of the enzyme in Escherichia coli and mammalian cells. J Biol Chem 2000;275:5409–5415.
   PubMed Web of Science ®Google Scholar
• Collet JF, Stroobant V, Pirard M, Delpierre G, Van Schaftingen E. A new class of phosphotransferases phos-phorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif. J Biol Chem 1998;273:14107–14112.
   PubMed Web of Science ®Google Scholar
• Allegrini S, Scaloni A, Ferrara L, Pesi R, Pinna P, Sgarrella F, Camici M, Eriksson S, Tozzi MG. Bovine cytosolic 5′-nucleotidase acts through the formation of an aspartate 52-phosphoenzyme intermediate. J Biol Chem 2001;276: 33526–33532.
   PubMed Web of Science ®Google Scholar
• Amici A, Emanuelli M, Ruggieri S, Raffaelli N, Magni G. Kinetic evidence for covalent phosphoryl-enzyme intermediate in phosphotransferase activity of human red cell pyrimidine nucleotidases. Methods Enzymol 2002;354:149–159.
   PubMed Web of Science ®Google Scholar
• Rinaldo-Matthis A, Rampazzo C, Reichard P, Bianchi V, Nordlund P. Crystal structure of a human mitochondrial deoxyribonucleotidase. Nat Struct Biol 2002;9:779–787.
   PubMedGoogle Scholar
• Paglia DE, Valentine WN, Brockway RA. Identification of thymidine nucleotidase and deoxyribonucleotidase activities among normal isozymes of 5′-nucleotidase in human erythrocytes. Proc Natl Acad Sci USA 1984;81: 588–592.
   PubMed Web of Science ®Google Scholar
• Amici A, Emanuelli M, Magni G, Rafaelli N, Ruggieri S. Pyrimidine nucleotidases from human erythrocyte possess phosphotransferase activity specific for pyrimidine nucleo-tides. FEBS Lett 1997;419:263–267.
   PubMed Web of Science ®Google Scholar
• Hirono A, Fujii H, Miwa S. Isozymes of human erythrocyte pyrimidine 5′-nucleotidase-chromatographic separation and their properties. Jpn J Exp Med 1985;55: 37–44.
   PubMedGoogle Scholar
• Wilson DE, Swallow DM, Povey S. Assignment of the human gene for uridine 5′-monophosphate phosphohydrolase (UMPH2) to the long arm of chromosome 17. Ann Hum Genet 1986;50: 223–227.
   PubMed Web of Science ®Google Scholar
• Amici A, Magni G. Human erythrocyte pyrimidine 5′-nucleotidase, PN-1. Arch Biochem Biophys 2002;397: 184–190.
   PubMed Web of Science ®Google Scholar
• Chiarelli LR, Bianchi P, Fermo E, Galizzi A, Iadarola P, Mattevi A, Zanella A, Valentini G. Functional analysis of pyrimidine 5′-nucleotidase mutants causing nonspherocytic hemolytic anemia. Blood 2005;105:3340–3345.
   PubMed Web of Science ®Google Scholar
• Paglia DE, Valentine WN. Characteristics of a pyrimidine-specific 5′-nucleotidase in human erythrocytes. J Biol Chem 1975;250:7973–7979.
   PubMed Web of Science ®Google Scholar
• Torrance JD, Whittaker D, Beutler E. Purification and properties of human erythrocyte pyrimidine 5′-nucleotidase. Proc Natl Acad Sci USA 1977;74: 3701–3704.
   PubMed Web of Science ®Google Scholar
• Bianchi P, Fermo F, Alfinito F, Vercellati C, Baserga M, Ferrano F, Guzzo I, Rotoli B, Zanella A. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′-nucleotidase deficiency. Br J Haematol 2003;122: 847–851.
   PubMed Web of Science ®Google Scholar
• Balta G, Fatma G, Akarsu N, Gurgey A, Atlay C. Molecular characterization of Turkish patients with pyrimidine nucleotidase-Ideficiency. Blood 2003;102:1900–1903.
   PubMed Web of Science ®Google Scholar
• Escuredo E, Marinaki AM, Duley JA, Thein SL, Rees DC. The genetic basis of the interaction between pyrimidine nucleotidase I deficiency and hemoglobin E. Nucleosides Nucleotides Nucleic Acids 2004;23:1261–1263.
   PubMed Web of Science ®Google Scholar
• Rechavi G, Vonsover A, Manor Y, Mileguir F, Shpilberg O, Kende G, Brok-Simoni F, Mandel M, Gotlieb-Stematski T, Ben-Bassat I, et al. Aplastic crisis due to human B19 parvovirus infection in red cell pyrimidine-5′-nucleotidase deficiency. Acta Haematol 1989;82: 46–49.
   PubMed Web of Science ®Google Scholar
• Valentine WN, Anderson HM, Paglia DE, Jaffe ER, Konrad PN, Harris SR. Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency. Blood 1972;39: 674–684.
   PubMed Web of Science ®Google Scholar
• Vives-Corrons JL, Montserrat-Costa E, Rozman C. Here-ditary hemolytic anemia with erythrocyte pyrimidine 5′-nucleotidase deficiency in Spain. Clinical, biological and familial studies. Hum Genet 1976;34:285–292.
   PubMed Web of Science ®Google Scholar
• David O, Ramenghi U, Camaschella C, Vota MG, Comino L, Pescarmona GP, Nicola P. Inhibition of hexose monophos-phate shunt in young erythrocytes by pyrimidine nucleotides in hereditary pyrimidinenucleotidase deficiency. EurJ Haematol 1991;47:48–54.
   PubMed Web of Science ®Google Scholar
• Ghosh K, Abdul Rahman HI, Torres EC, Abdul Wahab A, Hassanein AA. Report of the first case of pyrimidine nucleotidase deficiency from Kuwait detected by a screening test. A case report. Haematologia (Budap) 1991;24:229–233.
   PubMedGoogle Scholar
• Rees DC, Duley J, Simmonds HA, Wonke B, Them SL, Clegg JB, Weatherall DJ. Interaction of hemoglobin E and pyrimidine nucleotidase deficiency. Blood 1996;88:2761–2767.
   PubMed Web of Science ®Google Scholar
• Hirono A, Fujii H, Miyajima H, Kawakatsu T, Hiyoshi Y, Miwa S. Three families with hereditary hemolytic anemia and pyrimidine 5′-nucleotidase deficiency: Electrophoretic and kinetic studies. Chin Chim Acta. 1983;130:189–197.
   PubMed Web of Science ®Google Scholar
• Ericson A, de Verdier CH, Hansen TW, Seip M. Erythrocyte nucleotide pattern in two children in a Norwegian family with pyrimidine 5′-nucleotidase deficiency. Chin Chim Acta 1983;31:25–33.
   Web of Science ®Google Scholar
• McMahon JN, Lieberman JE, Gordon-Smith EC, Egan EL. Ereditary haemolytic anaemia due to red cell pyrimidine 5′-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy. Chin Lab Haematol 1981;3: 27–34.
   PubMedGoogle Scholar
• Ozsoylu S, Gurgey A. A case of hemolytic anemia due to erythrocyte pyrimidine 5′-nucleotidase deficiency. Acta Hae-matol 1981;66:56–58.
   PubMed Web of Science ®Google Scholar
• Dvilansky A, Hezkelson L, Wolfson M, Nathan I, Bashan N, Meyerstein N. Haemolytic anaemia due to pyrimidine-5′-nucleotidase deficiency. Int J Tissue React 1984;6:351–354.
   PubMedGoogle Scholar
• Torrance JD, Karabus CD, Shnier M, Meltzer M, Katz J, Jenkins T. Haemolytic anaemia due to erythrocyte pyrimidine 5′-nucleotidase deficiency. Report of the first South African family. S Aft Med J 1977;52:671–673.
   PubMed Web of Science ®Google Scholar
• Li JY, Wan SD, Ma ZM, Zhao YH, Zhou GP. A new mutant erythrocyte pyrimidine 5′-nucleotidase characterized by fast electrophoretic mobility in a Chinese boy with chronic hemolytic anemia. Chin Chim Acta 1991;200: 43–47.
   PubMed Web of Science ®Google Scholar
• Zanella A, unpublished.
   Google Scholar
• Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: Molecular and clinical aspects. Br J Haematol 2005; 130: 11–25.
   PubMed Web of Science ®Google Scholar
• Paglia DE, Fink K, Valentine WN. Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase. Acta Haematol 1980;63:262–267.
   PubMed Web of Science ®Google Scholar
• Hansen TW, Seip M, de Verdier CH, Ericson A. Erythrocyte pyrimidine 5′-nucleotidase deficiency. Report of 2 new cases, with a review of the literature. Scand J Haematol 1983;31: 122–128.
   PubMedGoogle Scholar
• Fiske CH, Subbarow Y. The colorimetric determination of phosphorus. J Biol Chem 1925;66:375–400.
   Google Scholar
• Ames BN. Assay of inorganic phosphate, total phosphate and phosphatases. Methods Enzymol 1966;8:115–118.
   Google Scholar
• Zerez CR, Tanaka KR. A continuous spectrophotometric assay for pyrimidine-5′-nucleotidase. Anal Biochem 1985;151: 282–285.
   PubMed Web of Science ®Google Scholar
• Ellims PH, Bailey L, Van Der Weyden MB. An improved method for the determination of human erythrocyte pyrimi-dine 5′-nucleotidase activity. Chin Chim Acta 1978;88: 99–103.
   PubMed Web of Science ®Google Scholar
• Torrance JD, West C, Beutler E. A simple rapid radiometric assay for pyrimidine-5′-nucleotidase. J Lab Chin Med 1977;90: 563–568.
   PubMed Web of Science ®Google Scholar
• Simmonds HA, Duley JA, Davies PM. Analysis of purines and pyrimidines in blood, urine and other physiological fluids. In: Hommes FA, editor. Techniques in diagnostic human biochemical genetics: a laboratory manual. New York: Wiley-Liss; 1991. p 397–424.
   Google Scholar
• Amici A, Emanuelli M, Ferretti E, Raffaelli N, Ruggieri S, Magni G. Homogeneous pyrimidine nucleotidase from human erythrocytes: Enzymic and molecular properties. Biochem J 1994;304:987–992.
   PubMed Web of Science ®Google Scholar
• Zanone C, Chiarelli LR, Valentini G, Perani E, Annovazzi L, Viglio S, Iadarola P. Pyrimidine 5′-nucleotidase activities detected in real samples by means of micellar electrokinetic chromatography. Electrophoresis 2004;25: 3270–3276.
   PubMed Web of Science ®Google Scholar