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Pathway Description
Lesch-Nyhan Syndrome (LNS)
Homo sapiens
Disease Pathway
Lesch-Nyhan Syndrome is a syndrome identified through its neurological, behavioural metabolic impact. It is characterized by a mental deficit and self-mutilation, accompanied with an overproduction of uric acid. A mutation of the HPRT1 gene are responsible for this condition, as they cause the enzyme hypoxanthine phosphoribosyltransferase 1 to be present in extremely low levels or absent altogether. This causes an overproduction of uric acid as the purines are not recycled, but only broken down. This gene is also connected to dopamine production, which a lack of causes smooth muscle function to suffer, resulting in dystonia, ballismus and chorea. Patients are usually unable to walk, and the connection between a lack of hypoxanthine phosphoribosyltransferase 1 and the behavioural abnormalities associated with this condition are unknown.
References
Lesch-Nyhan Syndrome (LNS) References
[OMIM: Entry 300322](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300322Jinnah, H. A.; Friedmann, T. : Lesch-Nyhan disease and its variants.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. II. 8th ed. New York: McGraw-Hill 2001. P. 2537.)
Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL: Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res. 1979 Dec;13(12):1365-70.
Pubmed: 523196
Ernst M, Zametkin AJ, Matochik JA, Pascualvaca D, Jons PH, Hardy K, Hankerson JG, Doudet DJ, Cohen RM: Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13;334(24):1568-72. doi: 10.1056/NEJM199606133342403.
Pubmed: 8628337
Lloyd KG, Hornykiewicz O, Davidson L, Shannak K, Farley I, Goldstein M, Shibuya M, Kelley WN, Fox IH: Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med. 1981 Nov 5;305(19):1106-11. doi: 10.1056/NEJM198111053051902.
Pubmed: 6117011
Nyhan WL, O'Neill JP, Jinnah HA, Harris JC: Lesch-Nyhan Syndrome
Pubmed: 20301328
Purine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Garcia-Gil M, Camici M, Allegrini S, Pesi R, Petrotto E, Tozzi MG: Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors. Int J Mol Sci. 2018 Nov 14;19(11). pii: ijms19113598. doi: 10.3390/ijms19113598.
Pubmed: 30441833
Davies O, Mendes P, Smallbone K, Malys N: Characterisation of multiple substrate-specific (d)ITP/(d)XTPase and modelling of deaminated purine nucleotide metabolism. BMB Rep. 2012 Apr;45(4):259-64.
Pubmed: 22531138
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