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Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotides in hereditary pyrimidine 5‘ nucleotidase deficiency
Author(s) -
David Onorata,
Ramenghi Ugo,
Camaschella Clara,
Vota Maria Grazia,
Comino Luisella,
Pescarmona Gian Piero,
Nicola Paolo
Publication year - 1991
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1991.tb00560.x
Subject(s) - pyrimidine , red cell , nucleotidase , pentose phosphate pathway , nucleotide , red blood cell , hexose , biochemistry , nucleoside , biology , chemistry , medicine , endocrinology , adenosine , enzyme , glycolysis , gene
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 deydrogenase (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 GdPD and stimulated HMS activity in the presence of a variable amount of pyrimidine nucleotides (37.79 and 17.88 pmol/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.