Problems in Diagnosis and Treatment of Adenine and Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Adenine (APRT) and hypoxanthine-guanine (HGPRT) phosphoribosyltransferase deficiency were originally identified in children.1,2 The spectrum of manifestations in both is broad with similarities, but also important differences. Both are asociated with urinary calculi and can cause severe renal damage.1,2 Severe neurological problems are also found in complete HGPRT deficiency 1 but have not been noted in APRT deficiency. We have investigated 2 children presenting in renal failure that emphasise the problems of diagnosis and treatment of these 2 deficiencies and the particular difficulties encountered in the presence of impaired renal function.