Lesch-Nyhan syndrome (LNS) is a serious genetic disorder characterized by hyperuricemia, dystonia, spasticity, choreoathetosis, speech impediments, kidney problems, varying degrees of cognitive impairment and, in particular, on the drive to self-harm that uncontrollable by the characteristic behavior is defined properly as Lesch-Nyhan syndrome.
The disease originates by the absence or the low activity of the enzyme hypoxanthine-guanine-phosphoribosyl-transferase (HPRT), which normally is present in all cells of our body.
The Institute for Rare Diseases “M. Baschirotto “(BIRD) cares about this terrible syndrome since 1996 both in terms of social welfare and medical-scientific field, decreasing the terrible isolation of families, creating help and support group, promoting meetings, training courses, medical examinations and periodic recovery with the presence of a specific team composed by the same prof Nyhan.
In the Medical Genetics laboratories of the Institute genetic diagnosis for patients with Lesch-Nyhan syndrome and their families can be carried out. Meanwhile researchers at the Institute are proceeding whith the study of the mechanisms underlying the disease.
To contact us
Fondazione Malattie Rare “Mauro Baschirotto” Onlus
Via Bartolomeo Bizio, 1
36023 Costozza di Longare (Vicenza)
Italy
- Phone +39 0444 555 557
- FAX +39 0444 555 034
- E-mail: [email protected]
