Lesch-Nyhan Syndrome

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Xu, C. Lesch-Nyhan Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4576 (accessed on 27 September 2026).

Xu C. Lesch-Nyhan Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4576. Accessed September 27, 2026.

Xu, Camila. "Lesch-Nyhan Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4576 (accessed September 27, 2026).

Xu, C. (2020, December 24). Lesch-Nyhan Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4576

Xu, Camila. "Lesch-Nyhan Syndrome." Encyclopedia. Web. 24 December, 2020.

Lesch-Nyhan Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome

Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.

genetic conditions

References

Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R,Fuchs J, Jinnah HA. Hypoxanthine-guanine phosphoribosyl transferase regulatesearly developmental programming of dopamine neurons: implications for Lesch-Nyhandisease pathogenesis. Hum Mol Genet. 2009 Jul 1;18(13):2317-27. doi:10.1093/hmg/ddp164.
Deutsch SI, Long KD, Rosse RB, Mastropaolo J, Eller J. Hypothesized deficiencyof guanine-based purines may contribute to abnormalities of neurodevelopment,neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. ClinNeuropharmacol. 2005 Jan-Feb;28(1):28-37. Review.
Ernst M, Zametkin AJ, Matochik JA, Pascualvaca D, Jons PH, Hardy K, Hankerson JG, Doudet DJ, Cohen RM. Presynaptic dopaminergic deficits in Lesch-Nyhandisease. N Engl J Med. 1996 Jun 13;334(24):1568-72.
Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum ofinherited mutations causing HPRT deficiency: 75 new cases and a review of 196previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. Review.
Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I,Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ,Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG;Lesch-Nyhan Disease International Study Group. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.Review.
Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect.2000 Jun;108 Suppl 3:409-11. Review.
Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purinemetabolism. J Inherit Metab Dis. 1997 Jun;20(2):171-8. Review.
Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P. Thespectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Clinical experience based on 22 patients from 18 Spanish families. Medicine(Baltimore). 2001 Mar;80(2):102-12.
Saito Y, Takashima S. Neurotransmitter changes in the pathophysiology ofLesch-Nyhan syndrome. Brain Dev. 2000 Sep;22 Suppl 1:S122-31. Review.
Visser JE, Bär PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. BrainRes Brain Res Rev. 2000 Apr;32(2-3):449-75. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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