Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency
dc.contributor.author | Fox, Irving H. | en_US |
dc.contributor.author | Kaminska, Jan | en_US |
dc.contributor.author | Edwards, N. Lawrence | en_US |
dc.date.accessioned | 2006-09-11T14:20:11Z | |
dc.date.available | 2006-09-11T14:20:11Z | |
dc.date.issued | 1980-04 | en_US |
dc.identifier.citation | Fox, Irving H.; Kaminska, Jan; Edwards, N. Lawrence; (1980). "Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency." Biochemical Genetics 18 (3-4): 221-234. <http://hdl.handle.net/2027.42/44134> | en_US |
dc.identifier.issn | 0006-2928 | en_US |
dc.identifier.issn | 1573-4927 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/44134 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=6160848&dopt=citation | en_US |
dc.description.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. | en_US |
dc.format.extent | 789414 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Purine Nucleotide Degradation | en_US |
dc.subject.other | Hypoxanthine-guaninine Phosphoribosyltransferase | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Medical Microbiology | en_US |
dc.subject.other | Biochemistry, General | en_US |
dc.subject.other | Zoology | en_US |
dc.subject.other | PP-ribose-P | en_US |
dc.subject.other | Deoxynucleosides | en_US |
dc.subject.other | Orotic Acid | en_US |
dc.title | Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Natural Resources and Environment | en_US |
dc.subject.hlbsecondlevel | Ecology and Evolutionary Biology | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Human Purine Research Center, Departments of Internal Medicine and Biological Chemistry, Clinical Research Center, University of Michigan Medical Center, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Human Purine Research Center, Departments of Internal Medicine and Biological Chemistry, Clinical Research Center, University of Michigan Medical Center, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Human Purine Research Center, Departments of Internal Medicine and Biological Chemistry, Clinical Research Center, University of Michigan Medical Center, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 6160848 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/44134/1/10528_2004_Article_BF00484238.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00484238 | en_US |
dc.identifier.source | Biochemical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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