Tzu Chi Medical Journal
Volume 19, Issue 3 , Pages 105-108 , September 2007

Lesch-Nyhan Disease and Related Disorders of Purine Metabolism

  • William L. Nyhan

      Affiliations

    • Corresponding Author InformationCorresponding author. Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA

Received 29 March 2007 ,Revised 30 March 2007 ,Accepted 2 April 2007.

References 

  1. Lesch M , Nyhan WL . A familial disorder of uric acid metabolism and central nervous system function . Am J Med . 1964;36:561–570
  2. Nyhan WL , Barshop BA , Ozand  . Atlas of Metabolic Diseases . 2nd edition. London: Hodder Arnold; 2005;
  3. Seegmiller JE , Rosenbloom FM , Kelley WN . Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis . Science . 1967;155:1682–1684
  4. Jinnah HA , Visser JE , Harris JC , et al.   Delineation of the motor disorder of Lesch-Nyhan disease . Brain . 2006;129:1201–1217
  5. Schretlen DJ , Ward J , Meyer SM , et al.   Behavioral aspects of Lesch-Nyhan disease and its variants . Dev Med Child Neurol . 2005;47:673–677
  6. Page T , Bakay B , Nissinen E , Nyhan WL . Hypoxanthineguanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity . J Inherit Metab Dis . 1981;4:203–206
  7. Page T , Nyhan WL , de Vega V Morena . Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase . Pediatrics . 1987;79:713–717
  8. De Gregorio L , Jinnah HA , Harris JC , et al.   Lesch-Nyhan disease in a female with a clinically normal monozygotic twin . Mol Genet Metab . 2005;85:70–77
  9. De Gregorio L , Nyhan WL , Serafin E , Chamoles NA . An unexpected affected female patient in a classical Lesch-Nyhan family . Mol Genet Metab . 2000;69:263–268
  10. Jinnah HA , De Gregorio L , Harris JC , Nyhan WL , O'Neill JP . The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases . Mutat Res . 2000;463:309–326
  11. Nyhan WL . Inherited hyperuricemic disorders . Contrib Nephrol . 2005;147:22–34
  12. Monnat RJ , Chiaverotti TA , Hackmann AF , Maresh GA . Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications . Genomics . 1992;13:788–796
  13. Sege-Peterson K , Chambers J , Page T , Jones OW , Nyhan WL . Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency . Hum Mol Genet . 1992;1:427–432
  14. Yang TP , Stout JT , Konecki DS , Patel PI , Alford RL , Caskey CT . Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement . Somat Cell Mol Genet . 1988;14:293–303

PII: S1016-3190(10)60001-8

doi: 10.1016/S1016-3190(10)60001-8

Tzu Chi Medical Journal
Volume 19, Issue 3 , Pages 105-108 , September 2007

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