Abnormal Purine Metabolism and Purine Overproduction in a Patient Deficient in Purine Nucleoside Phosphorylase
Authors:
- Amos CohenACAmos Cohen
- Deborah DoyleDDDeborah Doyle
- David W. MartinDMDavid W. Martin
- Arthur J. AmmannAAArthur J. Ammann
- 23 December 1976
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 295 (26) , 1449-1454
Abstract
To delineate the normal function of purine nucleoside phosphorylase and to understand the pathogenesis of the immune dysfunction associated with deficiency of this enzyme, we studied purine metabolism in a patient deficient in purine nucleoside phosphorylase, her erythrocytes and cultured fibroblasts. She exhibited severe hypouricemia and hypouricosuria but excreted excessive amounts of purines in her urine, the major components of which were inosine and guanosine. Her urine also contained deoxyinosine, deoxyguanosine and uric acid 9-N riboside.Keywords
This publication has 16 references indexed in Scilit:
- Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic diseaseCell, 1976
- Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan SyndromeScience, 1976
- Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine‐guanine phosphoribosyltransferase geneJournal of Cellular Physiology, 1976
- NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITYThe Lancet, 1975
- Combined immunodeficiency disease associated with adenosine deaminase deficiencyThe Journal of Pediatrics, 1975
- The Lesch-Nyhan SyndromeAnnual Review of Medicine, 1973
- ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITYThe Lancet, 1972
- Substrate Stabilization: Genetically Controlled Reciprocal Relationship of Two Human EnzymesScience, 1970
- 199. Uric acid riboside. Part I. Isolation and reinvestigation of the structureJournal of the Chemical Society (Resumed), 1961
- Does human blood contain Uric Acid Riboside?Scandinavian Journal of Clinical and Laboratory Investigation, 1957