Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Article
Dans Anglais
| IMSEAR
| ID: sea-85956
ABSTRACT
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Purines
/
Syndrome
/
Sites de fixation
/
Humains
/
Mâle
/
Lymphocytes
/
Goutte articulaire
/
Adulte
/
Hyperuricémie
/
Érythrocytes
langue:
Anglais
Année:
2006
Type:
Article
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