• A+
• A+
• A+

Adjust font size

GuideWisdom™

This WisdomCard managed by: Tara Salamone

Lesch-Nyhan syndrome is a rare genetic disorder that is caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).¹ This condition is inherited as X-linked recessive. As a result, the gene mutation is passed on from mother to son. Deficiency of the enzyme HPRT leads to build-up of uric acid in all body fluids. This leads to the following symptoms: severe gout (caused by sodium urate crystals), poor muscle control, and moderate retardation.²

Fast Facts:

• --The prevalence rate is 1 in 380,000 live births.¹
• --Death is usually a result of renal failure in the first or second decade of life.
• --One of the more prevalent clinical features includes self-mutilating behaviors (lip and finger biting).³

5 Great Resources on Lesch-Nyhan Syndrome

• A.D.A.M. (via MedlinePlus): Lesch-Nyhan Syndrome
• GeneReviews: Overview of Lesch-Nyhan Syndrome
• eMedicine: Lesch-Nyhan Syndrome
• Genetics Home Reference: Review of Lesch-Nyhan Syndrome
• Online Mendelian Inheritance in Man: Lesch-Nyhan Syndrome Information

Latest Headlines on Lesch-Nyhan Syndrome

• Lesch-Nyhan Syndrome News From Med Worm

What is Lesch-Nyhan Syndrome?

• National Institute of Neurological Disorders and Stroke: What is Lesch-Nyhan Syndrome?
• Gale Encyclopedia of Medicine (via HealthAtoZ): Lesch-Nyhan Syndrome Definition
• Cleveland Clinic: What Is Lesch-Nyhan Syndrome?

What Are The Symptoms of Lesch-Nyhan Syndrome?

• A.D.A.M. (via New York Times Health): Lesch-Nyhan Syndrome Symptoms
• National Organization for Rare Disorders: General Discussion For Symptoms Of Lesch-Nyhan Syndrome
• WrongDiagnosis: A Comprehensive List Of Symptoms For Lesch-Nyhan syndrome

What Are The Causes and Complications of Lesch-Nyhan Syndrome?

• New York University Langone Medical Center: Causes Of Lesch-Nyhan Syndrome
• University of Pittsburgh Medical Center: General Overview of Causes for Lesch-Nyhan syndrome
• Wikipedia: Genetic Causes Of Lesch-Nyhan Syndrome

What Are The Treatments and Medications for Lesch-Nyhan Syndrome?

• A.D.A.M. (via The University of Maryland Medical Center): Lesch-Nyhan Syndrome Treatment
• About.com: Treatment For Lesch-Nyhan Syndrome
• Beliefnet: Medications For Lesch-Nyhan Syndrome

What Are The Holistic and Alternative Treatments for Lesch-Nyhan Syndrome?

• AetnaInteliHealth: Complementary And Alternative Medicine 5-HTP (5-Hydroxytryptophan)

What Are The Types, Stages and Survival Rates of Lesch-Nyhan Syndrome?

• A.D.A.M. (via Quincy Medical Group): Outlook (Prognosis) For Lesch-Nyhan Syndrome
• The Free Dictionary-Medical Dictionary: Lesch-Nyhan Syndrome Prognosis
• Society Of The Study Of Behavioral Phenotypes: Lesch-Nyhan Disease (LDN) Fact Sheet: Life expectancy For Lesch-Nyhan Syndrome

How Do You Prevent Lesch-Nyhan Syndrome?

• A.D.A.M. (via The University of Maryland Medical Center): Lesch-Nyhan Syndrome Prevention
• Patient UK: Prevention For Lesch-Nyhan Syndrome
• New York University Langone Medical Center: Lesch-Nyhan Prevention

Wisdom, Blogs, and Message Boards about Lesch-Nyhan Syndrome

• New York University Langone Medical Center-Department of Psychiatry: Lesch-Nyham Syndrome Discussion Forum
• Yahoo Health Groups: Support group For Parent Or Advocate Of A Lesch-Nyhan Syndrome Individual

Foundations and Support Groups on Lesch-Nyhan Syndrome

• Purine Research Society: Lesch-Nyhan Syndrome
• CLIMB: Children Living with Inherited Metabolic Diseases
• The Arc: A National Organization on Mental Retardation

Scientific and Medical Journal Articles on Lesch-Nyhan Syndrome

• PubMed Central: Journal Articles For Lesch Nyhan Syndrome
• JAMA: Lesch-Nyhan Syndrome Articles
• Google Scholar: A List of Journal Articles For Lesch-Nyhan Syndrome

Clinical Trials on Lesch-Nyhan Syndrome

• ClinicalTrials.gov: Clinical Trials For Lesch-Nyhan syndrome

Related WisdomCards

• Genetic Testing
• Genetic Counseling
• Cerebral Palsy
• Mental Retardation
• Genetics
• Autism
• Rett Syndrome
• Genetic Testing During Pregnancy

GuideWisdom and Fast Facts References

1. ↑ ^{1.0 1.1} Genetics Home Reference: A Concise Review Of Lesch-Nyhan Syndrome
2. ↑ GeneticTests: A Comprehensive Overview Of Lesch-Nyhan Syndrome
3. ↑ Wikipedia: Self-Injuring Behavior In Lesch-Nyhan Syndrome

User Recommended Links for Lesch-Nyhan Syndrome

Are we missing any great links? Please Login or Register to be the first to add to this list of recommended links to help others and improve this WisdomCard.