Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family
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The study of inborn errors of purine metabolism in man has led to a better understanding of the latter. Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-guanine phosphoribosyltransferase (HGPRT), the clinical expression being the Lesch-Nyhan syndrome or eventually gout. Partial deficiency of adenine phosphoribosyltransferase (APRT), the enzyme catalyzing the transport of the ribosylphosphate moiety of phosphoribosylpyrophosphate (PRPP) to adenine with formation of AMP, has only rarely been described (2,3,5–9), Complete deficiency of this enzyme was reported in only one patient (2). We report here on two siblings with complete APRT deficiency: in the youngest child the deficiency was detected during an investigation for urolithiasis, in the older brother it was demonstrated on the occasion of the family study.
KeywordsUric Acid None None Purine Metabolism Erythrocyte Lysate Plasma Uric Acid
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