Article
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Journal of inherited metabolic disease - 1 Jan 2004
Bertelli M, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M
Abstract excerpt
Lesch-Nyhan syndrome (LSN, McKusick 300322) is an X-linked genetic disease due, in its typical form, to the complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) enzyme activity. It is characterized by hyperuricaemia, leading to gout and kidney stones, accompanied by severe neurological dysfunction with self-injurious behaviour, choreoathetosis and spasticity. Based on a worldwide...
Topics
- Adolescent
- Adult
- DNA
- Exons
- Female
- Gene Deletion
- Heterozygote
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Italy
- Lesch-Nyhan Syndrome
- Lymphocytes
- Male
- Middle Aged