Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotidase in hereditary pyrimidine 5' nucleotidase deficiency

O. David, U. Ramenghi, C. Camaschella, M. G. Voto, L. Comino, G. P. Pescarmona, P. Nicola

Research output: Contribution to journalArticle

Abstract

Recent reports have suggested that haemolytic anaemia in pyrimidine 5' nucleotidase (P5'N) deficiency might be due to impaired erythrocyte hexose monophosphate shunt (HMS). To investigate the relationship between pyrimidine accumulation, HMS impairment and shortened red-cell survival, we tested glucose-6-phosphate dehydrogenase (G-6PD), HMS, P5'N activities and the UV spectrum in whole red cells and in red cells of different age from 2 P5'N-deficient patients with different degrees of haemolytic anaemia. In whole red cells we found a reduction of both G-6PD and stimulated HMS activity in the presence of a variable amount of pyrimidine nucleotides (37.79 and 17.88 μmol/gHb respectively). A drastic inhibition of stimulated HMS activity was already present in the lightest red-cell fractions from patient 1, who presented a more severe haemolytic anaemia. The variable degree of pyrimidines found among red cell fractions, with a minor accumulation in the older red cells, supports the hypothesis that pyrimidine accumulation and HMS impairment occur in the younger erythrocytes of P5'N-deficient patients.

Original languageEnglish
Pages (from-to)48-54
Number of pages7
JournalEuropean Journal of Haematology
Volume47
Issue number1
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Hematology

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    David, O., Ramenghi, U., Camaschella, C., Voto, M. G., Comino, L., Pescarmona, G. P., & Nicola, P. (1991). Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotidase in hereditary pyrimidine 5' nucleotidase deficiency. European Journal of Haematology, 47(1), 48-54.