Lesch-Nyhan disease

The estimated prevalence of Lesch-Nyhan disease (LND) ranges from 1 case per 235,000 to 1 case per 380,000 live births.[8]Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007 Dec 8;2:48. http://www.ojrd.com/content/2/1/48 http://www.ncbi.nlm.nih.gov/pubmed/18067674?tool=bestpractice.com [9]Crawhall JC, Henderson JF, Kelley WN. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res. 1972 May;6(5):504-13. http://www.ncbi.nlm.nih.gov/pubmed/4558815?tool=bestpractice.com LND has been reported in most ethnic groups, with approximately equal rates. Because of the X-linked recessive mode of inheritance, virtually all patients are male. LND may occur in females as a result of exceptional genetic aberrations, although few female patients have been described to date.[3]Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001:2537-2570. Most patients come to medical attention early in life, usually before 4 years of age.

The prevalence of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is currently unknown.