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)

Images

Powered by

<b>Síndrome de Lesch Nyhan</b>

Síndrome de Lesch Nyhan
www.lookfordiagnosis.com

<b>Lesch</b>-<b>Nyhan's syndrome</b>

Lesch-Nyhan's syndrome
www.wikidoc.org

<b>Síndrome de Lesch</b>-<b>Nyhan</b>:

Síndrome de Lesch-Nyhan:
www.ellahoy.es

<b>Síndrome de Lesch</b>-<b>Nyhan</b>

Síndrome de Lesch-Nyhan
www.clubplaneta.com.mx

<b>síndrome de Lesch</b>-<b>Nyhan</b>

síndrome de Lesch-Nyhan
curiosidades.batanga.com

A <b>Síndrome de Lesch Nyhan</b>

A Síndrome de Lesch Nyhan
www.mundodastribos.com

<b>Síndrome de Lesch</b>-<b>Nyhan</b>

Síndrome de Lesch-Nyhan
yasalud.com

<b>Lesch Nyhan</b> Sendromu

Lesch Nyhan Sendromu
www.forumuz.net

Diagnostic et thérapies


Symptômes:

    

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).
N'évalue pas ni ne garantit l'exactitude des contenus de ce site. Cliquez ici pour accéder au texte complet de l'avertissement.
Dernière mise à jour: Avril 2009
Statistiques