PMID: 6160848Apr 1, 1980Paper

Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency

Biochemical Genetics
I H FoxW N Arnold

Abstract

Purine and pyrimidine metabolism was compared in erythrocytes from three patients from two families with purine nucleoside phosphorylase deficiency and T-cell immunodeficiency, one heterozygote subject for this enzyme deficiency, one patient with a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, and two normal subjects. The erythrocytes from the heterozygote subject were indistinguishable from the normal erythrocytes. The purine nucleoside phosphorylase deficient erythrocytes had a block in the conversion of inosine to hypoxanthine. The erythrocytes with 0.07% of normal purine nucleoside phosphorylase activity resembled erythrocytes with hypoxanthine-guanine phosphoribosyltransferase deficiency by having an elevated intracellular concentration of PP-ribose-P, increased synthesis of PP-ribose-P, and an elevated rate of carbon dioxide release from orotic acid during its conversion to UMP. Two hypotheses to account for the associated immunodeficiency--that the enzyme deficiency leads to a block of PP-ribose-P synthesis or inhibition of pyrimidine synthesis--could not be supported by observations in erythrocytes from both enzyme-deficient families.

References

Apr 1, 1978·The Journal of Clinical Investigation·E W GelfandI H Fox
Jan 1, 1978·Annual Review of Biochemistry·I H Fox, W N Kelley
Jan 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·A CohenD W Martin
Feb 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H Siegenbeek Van HeukelomS K Wadman
Mar 24, 1977·The New England Journal of Medicine·J W StoopR E Ballieux
Sep 1, 1976·The Journal of Clinical Investigation·F F SnyderJ E Seegmiller
Jun 1, 1967·Proceedings of the National Academy of Sciences of the United States of America·W N KelleyJ E Seegmiller
Mar 1, 1971·Annals of Internal Medicine·I H Fox, W N Kelley
Sep 26, 1972·Biochemical and Biophysical Research Communications·E KaukelH Hilz
Apr 8, 1974·Biochemical and Biophysical Research Communications·M B Van der WeydenW N Kelley
May 1, 1971·Annals of Human Genetics·Y H EdwardsH Harris
Apr 1, 1964·The American Journal of Medicine·M LESCH, W L NYHAN

❮ Previous
Next ❯

Citations

Jan 1, 1983·The International Journal of Biochemistry·G J PetersJ H Veerkamp

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.