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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Torres RJ, Puig JG. Torres RJ, et al. Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. Orphanet J Rare Dis. 2007. PMID: 18067674 Free PMC article. Review.
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymat …
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabo …
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. Sculley DG, et al. Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062. Hum Genet. 1992. PMID: 1487231 Review.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can resul …
Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the convers …
Hypoxanthine-guanine phosphoribosyl transferase deficiency.
de Bruyn CH. de Bruyn CH. Hum Genet. 1976 Feb 29;31(2):127-50. doi: 10.1007/BF00296142. Hum Genet. 1976. PMID: 765262 Review.
In man congential lack of enzyme of the purine salvage system, hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is mostly accompanied by a picture known as the Lesch-Nyhan snydrome. The degree of deficiency may vary from zero to a few per …
In man congential lack of enzyme of the purine salvage system, hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is most …
Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
Silverman LJ, Kelley WN, Palella TD. Silverman LJ, et al. Enzyme. 1987;38(1-4):36-44. doi: 10.1159/000469188. Enzyme. 1987. PMID: 2894305 Review.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) functions in the purine-metabolic salvage pathway. Two clinical syndromes are associated with a deficiency in HPRT enzyme activity. V …
Hypoxanthine-guanine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) …
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Davidson BL, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD. Davidson BL, et al. Am J Hum Genet. 1991 May;48(5):951-8. Am J Hum Genet. 1991. PMID: 2018042 Free PMC article. Review.
Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency causes the Lesch-Nyhan syndrome, an X-linked, purine metabolism disorder manifested by hyperuricemia, hyperuricaciduria, and neurologic dysfunction. Parti …
Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency causes the Lesch-Nyhan …
Gout, uric acid and purine metabolism in paediatric nephrology.
Cameron JS, Moro F, Simmonds HA. Cameron JS, et al. Pediatr Nephrol. 1993 Feb;7(1):105-18. doi: 10.1007/BF00861588. Pediatr Nephrol. 1993. PMID: 8439471 Review.
Children and infants may present chronically with stones or acutely with renal failure from crystal nephropathy, as a result of inherited deficiencies of the purine salvage enzymes hypoxanthine-guanine phosphoribosyltransferase (HPRT) and adenine phosphori …
Children and infants may present chronically with stones or acutely with renal failure from crystal nephropathy, as a result of inherited de …
The role of the HPRT gene in human disease.
Jolly DJ. Jolly DJ. Horiz Biochem Biophys. 1986;8:123-68. Horiz Biochem Biophys. 1986. PMID: 2875930 Review.
Human HPRT deficiency leads to two major forms of human disease. Partial enzyme deficiency results in gouty arthritis, while an almost complete deficiency leads to the Lesch-Nyhan disease. ...This may be a feature of most "housekeeping" g …
Human HPRT deficiency leads to two major forms of human disease. Partial enzyme deficiency results in gouty arthritis, …
[Complete and partial deficiency of HPRT].
Ogasawara N. Ogasawara N. Nihon Rinsho. 1996 Dec;54(12):3315-20. Nihon Rinsho. 1996. PMID: 8976112 Review. Japanese.
The Lesch-Nyhan syndrome results from a complete or virtually complete deficiency of the purine salvage enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT). ...The specific relationship between HPRT deficiency and the ne …
The Lesch-Nyhan syndrome results from a complete or virtually complete deficiency of the purine salvage enzyme, …