Lesch-Nyan Syndrome
Lesch-Nyhan syndrome is a condition characterised by the overproduction and accumulation of uric acid. People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and are generally wheelchair-bound. Self-injury, including biting and head banging, is the most common and distinctive behavioral problem in those with Lesch-Nyhan syndrome.
Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. Mutations in the HPRT1 gene cause a severe deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. When this enzyme is lacking, the breakdown of purines results in abnormally high levels of uric acid in the body. The condition is inherited in an X-linked recessive pattern.
Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. Mutations in the HPRT1 gene cause a severe deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. When this enzyme is lacking, the breakdown of purines results in abnormally high levels of uric acid in the body. The condition is inherited in an X-linked recessive pattern.
