Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three Generations: A Cautionary Tale

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency: complete HPRT deficiency (Lesch-Nyhan syndrome) presenting with severe neurologic or renal symptoms, or partial...

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Veröffentlicht in:	Pediatrics (Evanston) 2002-01, Vol.109 (1), p.e17-e17
Hauptverfasser:	Augoustides-Savvopoulou, Persephone, Papachristou, Fotis, Fairbanks, Lynette D, Dimitrakopoulos, Kostas, Marinaki, Anthony M, Simmonds, H. Anne
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Erythrocytes - chemistry Humans Kidney Failure, Chronic - genetics Kidney Failure, Chronic - prevention & control Lesch-Nyhan Syndrome - complications Lesch-Nyhan Syndrome - diagnosis Lesch-Nyhan Syndrome - therapy Male Nuclear Family Pediatrics Pedigree Uric Acid - analysis Urinary Calculi - chemistry Urinary Calculi - etiology
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