Information for doctors

The online resource eMedicine provides an introductory synopsis of Lesch-Nyhan disease for care providers. More detailed information can be found in the biomedical literature listed below:

Following is a comprehensive review of the entire disorder:

  • Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In The Metabolic and Molecular Bases of Inherited Diseases, 8th edition. Pages 2537-2570, 2000.

Several centers' summary of their experience:

  • Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan WL. Lesch-Nyhan diesease: clinical experience with 19 cases. Developmental Medicine and Child Neurology, 24: 293-306, 1982.
  • Mizuno T. Long-term follow-up of 10 patients with Lesch-Nyhan syndrome. Neuropediatrics, 17: 158-161, 1986.
  • Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buno AS, O'Neill JP. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: clinical experience based on 22 cases from 18 Spanish families. Medicine, 80: 102-112, 2001.

Articles relating to self-injury and other behavioral problems:

  • Anderson LT, Ernst M. Self-injury in Lesch-Nyhan disease. Journal of Autism and Developmental Disorders. 24: 67-81, 1994.
  • Robey KL, Reck JF, Giacomini KD, Barabas G, Eddey GE. Modes and patterns of self-mutilation in persons with Lesch-Nyhan syndrome. Developmental Medicine and Child Neurology, 45:167-171, 2003.
  • Schretlen DS, Ward J, Meyer SM, Yun J, Puig JC, Nyhan WL, Jinnah HA, Harris JC. Behavioral aspects of Lesch-Nyhan disease and its variants. Developmental Medicine and Child Neurology, 47: 673-677, 2005.

Articles relating to the neuromotor disability:

  • Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan WL, Kremer R, Eddey G, Puig JG, Reich SG. Delineation of the motor disorder of Lesch-Nyhan disease. Brain, in press, 2006.
  • Watts RWE, Spellacy E, Gibbs DA, Allsop J, McKeran RO, Slavin GE. Clinical, post-mortem, biochemical and post-mortem observations on Lesch-Nyhan disease with particular reference to the neurological manifestations. Quarterly Journal of Medicine, 201: 43-78, 1982.

Articles relating to cognition:

  • Matthews WS, Solan A, Barabas G. Cognitive functioning in Lesch-Nyhan syndrome. Developmental Medicine and Child Neurology, 37: 715-722, 1995.
  • Schretlen DS, Harris JC, Park KS, Jinnah HA, Ojeda del Pozo N. Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine guanine phosphoribosyltransferase deficiency. Journal of the International Neuropsychological Society, 7: 805-812, 2001.

Articles relating to kidney stones:

  • Rosenfeld DL, Preston MP, Salvaggi-Fadden K. Serial renal sonographic evaluation of patients with Lesch-Nyhan syndrome. Pediatric radiology, 24: 509-512, 1994.