Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.
J Clin Invest
; 65(1): 103-8, 1980 Jan.
Article
en En
| MEDLINE
| ID: mdl-6765955
ABSTRACT
Purine nucleoside phosphorylase deficiency is associated with a severely defective T-cell immunity. A patient with purine nucleoside phosphorylase deficiency was treated with transfusions of irradiated erythrocytes and plasma. This resulted in a remarkable correction of the metabolic disturbances in the patient. The urinary excretion of inosine, deoxyinosine, guanosine, and deoxyguanosine decreased, whereas uric acid excretion as well as serum uric acid concentration increased. It could be shown that the enzyme activity of the circulating erythrocytes correlated inversely with the urinary excretion of nucleosides and directly with the excretion of uric acid. As a consequence of the therapy, several glycolytic intermediates of the erythrocytes were increased, especially 2,3-diphosphoglycerate. The high 2,3-diphosphoglycerate level caused a shift to the right of the oxygen dissociation curve (P50 = 32.9 mm Hg). The immunological status of the patient showed definite improvement after the enzyme replacement therapy.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Pentosiltransferasa
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Transfusión Sanguínea
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Purina-Nucleósido Fosforilasa
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Transfusión de Eritrocitos
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Eritrocitos
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Síndromes de Inmunodeficiencia
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
J Clin Invest
Año:
1980
Tipo del documento:
Article