title: Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
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.
authors.affiliation: Department of Haematology, Fondazione IRCCS Ospedale Maggiore, Mangiagalli i Regina Elena, Via F. Sforza 35, 20122 Milan, Italy. div_emat@policlinico.mi.it
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Valentini
mesh_terms: D015720:5'-Nucleotidase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D009154:Mutation; D013329:Structure-Activity Relationship
chemical_list: D015720:5'-Nucleotidase