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Preferred term

Lesch-Nyhan syndrome  

Definition

  • 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]

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https://concepts.sagepub.com/social-science/concept/Lesch-Nyhan_syndrome

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