Lesch-Nyhan syndrome

Definition:

Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations.

References:

[1]. Gillian McCarthy, et al. Medical diagnosis, management and treatment of Lesch Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1147-52. [Content Brief]

[2]. Rosa J Torres, et al. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007 Dec 8;2:48. [Content Brief]

[3]. Stephen I Deutsch, et al. Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. Clin Neuropharmacol. 2005 Jan-Feb;28(1):28-37. [Content Brief]

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