Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: metabolic studies during treatment

Wadman, S. K.; Bree, P.K. De; Hendrickx, G. F. M.; Zegers, B. J. M.; Stoop, J. W.

doi:10.1007/978-94-011-6197-8_8

Cited by 2 publications

(4 citation statements)

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“…The fourth child developed a selective impairment ofT-cell function during the 1st yr of life, whereas B-cell function apparently developed quite normally (5). The immunodeficiency in the fourth child was associated with a PNP deficiency as could be concluded from the absence of enzyme activity in erythrocytes, lymphocytes, and fibroblasts of the patient (4, 5) as well as from the excretion pattern of purine metabolites: high urine and serum levels of inosine, deoxyinosine, guanosine, and deoxyguanosine were present, whereas levels of urinary and serum uric acid were extremely low (5,17). The parents and healthy brother showed PNP activities encompassing the heterozygous state.…”

Section: Methodsmentioning

confidence: 89%

“…In summary it can be said that in vivo administration ofadenine and uridine has some demonstrable effect on the percentage of E-rosetting T cells, but not on the lymphocyte count or the in vitro phytohemagglutinin response; also the granulocyte number and the megaloblastic bone marrow characteristics remained unchanged (12,17).…”

Section: Methodsmentioning

confidence: 95%

“…Before transfusion therapy urinary excretion of purines, i.e., inosine, deoxyinosine, guanosine, and deoxyguanosine was very high (17). The mean daily loss of nucleosides was increased (0.3 mmol/kg) (16).…”

Section: Methodsmentioning

confidence: 99%

“…diet; earlier (16) it was shown that a purine-restricted diet had little or no influence on the total daily excretion of ribonucleosides and deoxyribonucleosides. Ribonucleosides and deoxyribonucleosides were determined with high pressure liquid chromatography as described in detail earlier (17). Uric acid was determined enzymatically with uricase.…”

Section: Methodsmentioning

confidence: 99%

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Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.

Staal¹,

Stoop²,

Zegers³

et al. 1980

J. Clin. Invest.

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A B S T R A C T 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 ofthe 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.

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Section: Methodsmentioning

confidence: 89%

Section: Methodsmentioning

confidence: 95%