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.
KeywordsUric Acid Plasma Uric Acid Lesch Nyhan Syndrome Plasma Urate APRT Deficiency
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- 1.W. N. Kelley and J. B. Wyngaarden. The Lesch Nyhan Syndrome. In: “The Metabolic Basis of Inherited Disease” Ed. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, P 1011. McGraw Hill, New York, 4th Edition, 1978Google Scholar