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HYPERURICEMIE [2 records]

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.

Save record 1

Record 2 2001-06-04

English

Subject field(s)
  • Diagnostic Procedures (Medicine)
  • Symptoms (Medicine)
CONT

... uricemia per se in humans is the abnormal result of an inborn error of urate catabolism. In terms of the pathogenesis of gout, which is caused by urate crystals rather than urate in solution, "hyperuricemia" is defined by the solubility of urate in body fluids, not by statistical distributions of urate levels.

French

Domaine(s)
  • Méthodes diagnostiques (Médecine)
  • Symptômes (Médecine)
CONT

L'excès d'acide urique dans le sang ou "hyperuricémie".

Spanish

Save record 2

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