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HIPERURICEMIA [1 record]

Record 1 2004-11-30

English

Subject field(s)
  • Nervous System
DEF

Hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst or enzyme, hypoxanthine - guanine - phosphoribosyl transferase, which normally is particularly active in brain cells and is involved in the metabolism of purines.

OBS

Lesch-Nyhan syndrome is transmitted by a recessive sex-linked gene and generally affects males.

French

Domaine(s)
  • Système nerveux
OBS

Le syndrome est causé par une absence d'enzyme : l'hypoxanthine - guanine - phospho - ribosyl - transférase.

Spanish

Campo(s) temático(s)
  • Sistema nervioso
CONT

El síndrome de Lesch-Nyhan es una enfermedad metabólica hereditaria caracterizada por la carencia total de la HPRT (hidroxantina fosforibosil transferasa), enzima que cataliza la conversión de la hipoxantina a inosina-5-monofosfato.

OBS

La enfermedad se caracteriza por hiperuricemia y gota en niños varones.

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