Inheritance of adenine phosphoribosyltransferase (APRT) deficiency.

Abstract

Recognition of the importance of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the control of purine metabolism lead to systematic investigations of the companion purine salvage enzyme, adenine phosphoribosyltransferase (APRT). This was followed by the discovery of individuals (considered to be heterozygous for the defect) with reduced APRT activity in erythrocyte lysates. Within a relatively short time, five such individuals and their families — a total of 82 individuals — 39 of whom had reduced erythrocyte APRT activity, were investigated (1–5). Disturbances of urate metabolism, accompanied in some instances by gout and/or urolithiasis, were found in 4 heterozygotes from three kindreds. HGPRT activity was normal in all. The possibility of an X linked inheritance could not be excluded from the first pedigrees (1). Subsequently the presence of identical disturbances in family members with normal erythrocyte APRT made any direct correlation between abnormal urate metabolism and APRT deficiency unlikely (Table); an autosomal recessive mode of inheritance was also proposed from detailed family investigations. The segregation of the defect varied widely.KeywordsCalcium OxalatePurine MetabolismErythrocyte LysateAutosoma1 Recessive TraitAutosomal Recessive ModeThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.