Problems of Diagnosis in an Adolescent with Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency and Acute Renal Failure

Abstract

In hypoxanthine-guanine phosphoribosyltransferase (E.C 2.4.2.8, HGPRT) deficiency^1,2 the clinical manifestations usually parallel the amount of residual enzyme. Thus, patients with the full Lesch-Nyhan syndrome, including mental retardation, athetosis, hypotonia and compulsive self-mutilation, show no detectable enzyme (<0.01 nmol/mg protein/h), whilst those presenting as adult gout usually show low but detectable levels of enzyme.^1,2 However, patients with severe neurological defects and detectable levels of enzyme have been described,² as well as at least twelve patients whose red cell lysates lacked enzyme (<0.1 nmol/mg protein/h) but who were neurologically intact.^3–8 We describe a patient who presented initially with acute renal failure, without any neurological manifestations and later developed tophaceous gout. Erythrocyte lysates demonstrated almost undetectable levels of HGPRT activity.