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Concept information

Preferred term

Lesch-Nyhan syndrome  

Definition(s)

  • Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism caused by absence of, or deficiency in, hypoxanthine-guanine phosphoribosyl transferase (HPRT). HPRT metabolizes hypoxanthine and guanine to uric acid. [Source: Encyclopedia of Human Development; Lesch-Nyhan Syndrome]

Belongs to group

URI

http://data.loterre.fr/ark:/67375/N9J-KSHN0JRW-3

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