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 language | English |
|---|---|
| Pages (from-to) | 48-54 |
| Number of pages | 7 |
| Journal | European Journal of Haematology |
| Volume | 47 |
| Issue number | 1 |
| Publication status | Published - 1991 |
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- Hematology
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Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotidase in hereditary pyrimidine 5' nucleotidase deficiency. / David, O.; Ramenghi, U.; Camaschella, C.; Voto, M. G.; Comino, L.; Pescarmona, G. P.; Nicola, P.
In: European Journal of Haematology, Vol. 47, No. 1, 1991, p. 48-54.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotidase in hereditary pyrimidine 5' nucleotidase deficiency
AU - David, O.
AU - Ramenghi, U.
AU - Camaschella, C.
AU - Voto, M. G.
AU - Comino, L.
AU - Pescarmona, G. P.
AU - Nicola, P.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
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M3 - Article
C2 - 1868914
AN - SCOPUS:0025772852
VL - 47
SP - 48
EP - 54
JO - European Journal of Haematology
JF - European Journal of Haematology
SN - 0902-4441
IS - 1
ER -