Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation

Abstract The hypoxanthine-guanine phosphoribosyltransferase deficiency is an inborn error of purine metabolism, linked to the X chromosome. The clinical phenotypes associated with HPRT deficiency varied according to the level of enzyme deficiency, with a large spectrum of neurologic features like se...

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Veröffentlicht in:	Joint, bone, spine : revue du rhumatisme bone, spine : revue du rhumatisme, 2013-01, Vol.80 (1), p.93-95
Hauptverfasser:	Sapag, Ana, Frischling, Eduardo, Laborde, Hugo
Format:	Artikel
Sprache:	eng
Schlagworte:	Enzymes Gout Humans Hyperuricemia Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Hypoxanthine-guanine phosphoribosyltransferase deficiency Internal Medicine Lesch-Nyhan Syndrome - diagnosis Lesch-Nyhan Syndrome - drug therapy Lesch-Nyhan Syndrome - enzymology Lesch-Nyhan Syndrome - genetics Lesch-Nyhan variant Male Mutation Neurological disorders Rheumatology Young Adult
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