Lesch-Nyhan syndrome: Lesch-Nyhan syndrome (LNS) is a rare inherited disease that disrupts the metabolism of the raw material of genes. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT. More detailed information about the symptoms, causes, and treatments of Lesch-Nyhan syndrome is available below.
See full list of 19 symptoms of Lesch-Nyhan syndrome
Review possible medical complications related to Lesch-Nyhan syndrome:
Research the causes of these diseases that are similar to, or related to, Lesch-Nyhan syndrome:
Read more about tests for Lesch-Nyhan syndrome
Read more about causes of Lesch-Nyhan syndrome.
Medical research articles related to Lesch-Nyhan syndrome include:
Click here to find more evidence-based articles on the TRIP Database
"I authorize the release of any medical or other information necessary to process this claim." Do you recognize these words? You should, if...
Whenever you go to a hospital or clinic for a major procedure or diagnostic test, one of the many forms you are given to sign is an "informed...
Germs are a fact of life and catching an infectious disease like a cold may seem inevitable. But there are simple ways to protect yourself against...
Sleep is necessary to feel refreshed, but now we know sleep actually impacts the way the body functions. Sleeping poorly can affect how often you get...
Visit our research pages for current research about Lesch-Nyhan syndrome treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Lesch-Nyhan syndrome include:
Read more about Clinical Trials for Lesch-Nyhan syndrome
Types of Lesch-Nyhan syndrome
Related forums and medical stories:
Read about other experiences, ask a question about Lesch-Nyhan syndrome, or answer someone else's question, on our message boards:
Lesch-Nyhan syndrome (LNS) is a rare inherited disease that disrupts the metabolism of the raw material of genes. (Source: Genes and Disease by the National Center for Biotechnology)
An inborn error of metabolism resulting from a deficiency of hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) with increased conversion of glycine to uric acid with excessive purine synthesis and hyperuricemia. Patients are normal at birth but begin to show hypertonicity at about 4 months and irritability and other neurological symptoms become apparent during the second year of life, the child becoming gradually more aggressive and self-destructive, banging his head, biting the lower lip and, less commonly, the upper lip, cheeks, fingers, and hands, sometimes using the fingers to mutilate his ears and nose. Associated disorders include spastic cerebral palsy, choreoathetosis, renal uric acid calculi, gouty tophi, and uric acid nodules. Mental retardation is common but normal intelligence occurs in some cases. - (Source - Diseases Database)
Lesch-Nyhan syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Lesch-Nyhan syndrome, or a subtype of Lesch-Nyhan syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Lesch-Nyhan syndrome as a "rare disease".
Source - Orphanet
» Next page: What is Lesch-Nyhan syndrome?
What do you think about the features of this website? Take our user survey and have your say:
Next articles:
Tools & Services:
Medical Articles:
Search Specialists by State and City
By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.
Copyright © 2009 Health Grades Inc. All rights reserved.
