UCL Queen Square Institute of Neurology


Lesch-Nyhan Syndrome

Medline NLM definition: An X-linked disease caused by a deficiency of an enzyme of purine metabolism, hypoxanthine phosphoribosyltransferase, and characterized by physical and mental retardation, hyperuricemia, self-mutilation, and choreoathetosis.

Lesch-Nyhan Syndrome: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke (US site)

Lesch Nyhan Syndrome: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Lesch-Nyhan Syndrome

Support Groups

A charity set up to provide information and support for, and to encourage research into, a group of genetic metabolic purine and pyrimidine disorders.

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.