Technological Advances in The Dental Management of Patients with Lesch-Nyhan Syndrome: A Case Report

Lesch-Nyhan syndrome (LNS) is a rare X-linked genetic disorder of purine metabolism [1], affecting the central nervous system [2]. It is a perfect example of a well-established molecular disorder that is consistently linked to a complex behavioral pattern [2]. The defective activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) [3,4], catalyzing conversion of the purines hypoxanthine and guanine to the nucleotides inosine monophosphate and guanosine monophosphate respectively, leads to the concentration of large amounts of hypoxanthime, xanthine, and uric acid in blood [3,4]. Epistasis between the mutated hypoxanthine phosphoribosyltransferase 1 (HPRT1) and the amyloid precursor protein (APP) genes has been recently suggested [3]. The main tissues affected are brain, liver, and erythrocytes (megaloblastic anaemia is frequent; microcitic anaemia can also be present) [4,5].