TY - JOUR
T1 - Hereditary pyrimidine 5′-nucleotidase deficiency
T2 - From genetics to clinical manifestations
AU - Zanella, Alberto
AU - Bianchi, Paola
AU - Fermo, Elisa
AU - Valentini, Giovanna
PY - 2006/4
Y1 - 2006/4
N2 - 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.
AB - 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.
KW - Erythroenzymopathy
KW - Hereditary haemolytic anaemia
KW - Mutations
KW - Pyrimidine 5′-nucleotidase
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U2 - 10.1111/j.1365-2141.2006.05992.x
DO - 10.1111/j.1365-2141.2006.05992.x
M3 - Article
C2 - 16611302
AN - SCOPUS:33645085288
VL - 133
SP - 113
EP - 123
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 2
ER -