Hereditary pyrimidine 5′-nucleotidase deficiency: From genetics to clinical manifestations

Alberto Zanella, Paola Bianchi, Elisa Fermo, Giovanna Valentini

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary pyrimidine 5′-nucleotidase (P5′N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non-spherocytic haemolytic anaemia. The disorder is usually characterised by mild-to-moderate haemolytic anaemia associated with the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The precise mechanisms leading to the destruction of P5′N deficient red cells are still unclear. The pyrimidine 5′-nucleotidase type-I (P5′N-1) gene is localised on 7p15-p14 and the cDNA has been cloned and sequenced; 20 mutations have been identified so far in 30 unrelated families, most of them at the homozygous level. Recently, the comparison of recombinant mutants of human P5′N-1 with the wild-type enzyme has enabled the effects of amino acid replacements on the enzyme molecular properties to be determined and help to correlate genotype to clinical phenotype.

Original languageEnglish
Pages (from-to)113-123
Number of pages11
JournalBritish Journal of Haematology
Volume133
Issue number2
DOIs
Publication statusPublished - Apr 2006

Keywords

  • Erythroenzymopathy
  • Hereditary haemolytic anaemia
  • Mutations
  • Pyrimidine 5′-nucleotidase

ASJC Scopus subject areas

  • Hematology

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