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Syndrome De Lesch-Nyhan
(deficit complet en hgprt; deficit en hypoxanthine guanine phosphoribosyltransferase; deficit en hypoxanthine-guanine-phosphoribosyl-transferase; maladie de lesch-nyhan)


An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; hypoxanthine PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

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<b>Lesch Nyhan</b> Sendromu
Lesch Nyhan Sendromu
www.forumuz.net

<b>Lesch</b>-<b>Nyhan Syndrome</b>
Lesch-Nyhan Syndrome
www.thefreedictionary.com

Living With <b>Lesch</b>-<b>Nyhan</b>: the
Living With Lesch-Nyhan: the
lookfordiagnosis.com

<b>Lesch</b>-<b>Nyhan syndrome</b>
Lesch-Nyhan syndrome
intranet.tdmu.edu.ua

<b>Lesch</b>-<b>Nyhan syndrome</b>: A case www.gfmer.ch
Lesch-Nyhan syndrome: A case www.gfmer.ch
lookfordiagnosis.com

<b>Lesch</b>-<b>Nyhan</b>症候群 - meddic
Lesch-Nyhan症候群 - meddic
meddic.jp

<b>Lesch</b>-<b>Nyhan Syndrome</b>
Lesch-Nyhan Syndrome
2il.org

<b>Lesch</b>-<b>Nyhan</b> Disease is one of
Lesch-Nyhan Disease is one of
trialx.com

Diagnostic et thérapies


Symptômes:

    

Rapide   Hiérarchique

Wikipedia


Acide uriqueHyperuricémieHypoxanthine

Plus d'information


  • CISMeF - Catalogue et Index des Sites Médicaux Francophones.
  • OMS - Organisation Mondiale de la Santé.
  • Cas rapportés (traduit de l'anglais par Altavista Babel Fish).

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Dernière mise à jour: Avril 2009
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