Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis
Open Access
- 1 September 1973
- journal article
- research article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 52 (9), 2234-2240
- https://doi.org/10.1172/jci107409
Abstract
We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal HPRT enzyme was demonstrated by enzyme kinetic study with phosphoribosylpyrophosphate (PRPP) as the variable substrate and inhibitory studies with sodium fluoride. Apparently normal HPRT activity in a patient with hyperuricemia and gout does not exclude a functionally significant HPRT mutation.Keywords
This publication has 37 references indexed in Scilit:
- Azaguanine resistant hamster cell lines not deficient in hypoxanthine-guanine phosphoribosyl transferaseJournal of Cellular Physiology, 1973
- Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and goutBiochemical Medicine, 1972
- Chemical Mutagenesis at the Phosphoribosyltransferase Locus in Cultured Human LymphoblastsProceedings of the National Academy of Sciences, 1972
- Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acidAmerican Journal Of Medicine, 1972
- The spontaneous azaguanine-resistant mutants of diploid human fibroblastsPublished by Springer Nature ,1972
- Lesch-Nyhan Syndrome: Altered Kinetic Properties of Mutant EnzymeScience, 1971
- Diploid Azaguanine-Resistant Mutants of Cultured Human FibroblastsScience, 1970
- Kinetic Studies of Hypoxanthine-Guanine PhosphoribosyltransferaseJournal of Biological Chemistry, 1968
- The Effects of Azathioprine (Imuran) on Purine Synthesis in Clinical Disorders of Purine Metabolism*JCI Insight, 1967
- THE ACTION OF NORMAL AND ATYPICAL CHOLINESTERASE OF HUMAN SERUM UPON A SERIES OF ESTERS OF CHOLINECanadian Journal of Biochemistry and Physiology, 1960