title: The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
abstract: The Lesch-Nyhan syndrome is a rare inborn error of purine metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in mental retardation with characteristic self-mutilation, spasticity, extrapyramidal signs and hyperuricaemia. The clinical and biochemical findings in an 18-month-old boy, who presented with renal calculi and was shown to have less than 1% of normal HGPRT activity, are reported. The obvious neurological abnormalities had previously been thought to be due to hypoxic-ischaemic encephalopathy. The expected incidence of this disease is much higher than the known number of cases diagnosed.
authors.affiliation: Department of Paediatrics, University of Cape Town.
authors.forename: R D
authors.initials: RD
authors.lastname: Gilbert
authors.forename: J
authors.initials: J
authors.lastname: Wiggelinkhuizen
authors.forename: E H
authors.initials: EH
authors.lastname: Harley
authors.forename: A
authors.initials: A
authors.lastname: Marinaki
mesh_terms: D001264:Athetosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008297:Male; D012652:Self Mutilation; D013019:South Africa