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... > social science subjects > psychology > behavior mechanisms > human development > health and well-being > Lesch-Nyhan syndrome
... > social science subjects > psychology > abnormal psychology > mental disorders > mental disorders diagnosed in childhood > intellectual disability > X-linked intellectual disability > Lesch-Nyhan syndrome
... > social science subjects > psychology > behavior mechanisms > neurobehavioral manifestations > intellectual disability > X-linked intellectual disability > Lesch-Nyhan syndrome
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... > social science subjects > health and social care > health care quality, access, and evaluation > health services research > disease, disability, health, and health behavior > disease > symptoms of disease > neurologic manifestations > neurobehavioral manifestations > intellectual disability > X-linked intellectual disability > Lesch-Nyhan syndrome
... > social science subjects > psychology > abnormal psychology > mental disorders > neurodevelopmental disorders > intellectual disability > X-linked intellectual disability > Lesch-Nyhan syndrome

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]

Broader concept

Belongs to group

URI

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

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