Animal models of Lesch-Nyhan syndrome

Brain Res Bull. 1990 Sep;25(3):467-75. doi: 10.1016/0361-9230(90)90239-v.


In humans, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) is associated with a disorder known as Lesch-Nyhan syndrome which includes severe neurobehavioral abnormalities. Several animal models which have been developed to examine the neurobiologic substrates of this disorder have suggested a role for abnormal function in purine/dopamine neurotransmission, but the relationship between HPRT-deficiency and these abnormalities remains unknown. Recently, HPRT-deficient mice have been produced which appear to have similar, though more subtle changes in brain dopamine function. These mice will be useful in elucidating the relationship between HPRT-deficiency and the neurological deficits observed in patients with this disorder.

Publication types

  • Review

MeSH terms

  • Disease Models, Animal*
  • Humans
  • Lesch-Nyhan Syndrome / physiopathology*