[A case of partial deficiency of hypoxanthine-guanine phosphoribosyltransferase]. 1988

K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani

UI MeSH Term Description Entries
D007041 Hypoxanthine Phosphoribosyltransferase An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8. Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP
D008297 Male Males
D011687 Purines A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006073 Gout Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi. Gouts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D014527 Uric Acid An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN. 2,6,8-Trihydroxypurine,Ammonium Acid Urate,Monosodium Urate,Monosodium Urate Monohydrate,Potassium Urate,Sodium Acid Urate,Sodium Acid Urate Monohydrate,Sodium Urate,Sodium Urate Monohydrate,Trioxopurine,Urate,Acid Urate, Ammonium,Acid Urate, Sodium,Acid, Uric,Monohydrate, Monosodium Urate,Monohydrate, Sodium Urate,Urate Monohydrate, Monosodium,Urate Monohydrate, Sodium,Urate, Ammonium Acid,Urate, Monosodium,Urate, Potassium,Urate, Sodium,Urate, Sodium Acid

Related Publications

K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
January 1986, Pediatric neurology,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
December 1970, Bulletin on the rheumatic diseases,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
January 1998, Ryoikibetsu shokogun shirizu,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
September 2017, Clinica chimica acta; international journal of clinical chemistry,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
July 1977, The Journal of laboratory and clinical medicine,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
January 2014, Rinsho shinkeigaku = Clinical neurology,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
December 2005, Pediatric nephrology (Berlin, Germany),
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
January 1969, Annals of internal medicine,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
January 1973, Advances in experimental medicine and biology,
K Fujita, and Y Aoyagi, and T Kamimura, and F Ichida, and N Kamatani
November 1998, Internal medicine (Tokyo, Japan),
Copied contents to your clipboard!