Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers
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Lesch-Nyhan syndrome is a rare X-linked genetic disorder caused by an inborn error of nucleotide metabolism. The disease is characterised by abnormal metabolic and neurologic manifestations. This includes hyperuricaemia and a distinctive neuro-behavioural phenotype manifested by dystonia and behavioural symptoms, with possible subsequent self-mutilation behaviour. The mutations can be localised to the HPRT1 gene which encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), a key molecule involved in the recycling of purine bases (Fig. 1). Patients with a partial enzyme deficiency (Lesch-Nyhan variants) display an incomplete phenotype, varying dependent on residual HPRT activity [ 1]. Patients with the most severe form of disease have virtually complete deficiency (less than 1.5% residual HPRT activity) and are typically affected by the classical form of Lesch-Nyhan syndrome. Patients with partial enzyme deficiency (at least 8% residual HPRTactivity), also...
KeywordsLesch-Nyhan syndrome Allopurinol Purine metabolism
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The authors declare that they have no conflict of interest.
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