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Welcome to
Lesch-Nyhan Dedicated Advocates
We're here to help guide you along your journey!
About us
Our Purpose
Is to bring together, provide a voice and share knowledge to anyone who has ever been or may ever be touched by Lesch-Nyhan. In our initiative to support individuals, we will coordinate communications from others. Although personal experiences are unique, they can offer a sense of compassion and understanding unlike anyone else.
Our aim is to empower individuals, their families, friends and healthcare professionals to be advocates, sharing their knowledge and experiences to help others. In addition, we hope to spark an interest in others to continue research efforts that may help to prevent or even one day provide a cure!
How it all began
In an attempt to reach as broad of an audience as possible, this group was formed out of an inspiration to bring support and science together, in one unified effort. By offering direction in finding appropriate resources and teaching one to use their voice, we hope to alleviate some of the day to day struggles, along with updated and more effective treatment options for Lesch-Nyhan.
Our Goal
Is to create awareness in the community. This will allow for an earlier diagnosis, a quicker treatment regiment and the possibility of alternate research opportunities.
An annual gathering will be held to connect families. These gatherings will give others the ability to share experiences and hear about various topics affecting these individuals.
Lesch-Nyhan is
A metabolic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransfarace (HGPRT). The missing enzyme is used to help the body recycle purines back into its nucleotide. By doing so, proper flushing through the kidneys occurs. It was first identified in 1964, through extensive research by doctors William Nyhan and Michael Lesch, his intern at the time. They examined two brothers with very unusual symptoms.
In Lesch-Nyhan patients, their bodies compensate for the missing enzyme, by building up an abundance of uric acid. This excess accumulates and deposits itself into different parts of the body, causing gout. The kidney then attempts to correct the problem by over producing stones, which eventually are partially excreted through the urine and can be seen in diapers often referred to as “orange sand”.
The most prominent symptom of the disorder is self injurious actions. These actions can manifest physically, emotionally or even psychologically. Most patients experience this uncontrollable urge to harm themselves and require the use of self protective devices, to help alleviate the compulsion. These actions are usually referred to as behaviors, causing most specialists to try and treat them with traditional methods, which can lead to making the symptoms more severe. At this time there are no cures and very few treatment options available.
It is X-linked and inheritable, usually passed by the mother. However, many cases have been discovered to be from spontaneous mutation. Although it has primarily been found in males, more cases of females have begun to emerge. Often times a misdiagnosis is received due to the similar body movements and dystonia like reflexes found in those with Cerebral Palsy. In addition, a new form of Lesch-Nyhan has been discovered, called Variant. These patients are less likely to have the severe muscular deficiencies or self injurious actions.
Medical advisory committee
William L. Nyhan M.D. PhD
Jennifer Wissinger PT, DPT
William L. Nyhan M.D. PhD
H.A. Jinnah M.D. PhD
Jennifer Wissinger PT, DPT
William L. Nyhan M.D. PhD
Jennifer Wissinger PT, DPT
Jennifer Wissinger PT, DPT
Jennifer Wissinger PT, DPT
Contact us
How can we help?
We understand that each individuals situation and needs are unique to them. Tell us more about what you're looking for, and we will get back to you soon with some ideas.
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Your support and contributions will enable us to meet our goals and improve conditions. Your generous donation will fund our mission.
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