Lesch Nyhan syndrome

Title

Other Names:

LNS; HPRT deficiency; HPRT1 deficiency; LNS; HPRT deficiency; HPRT1 deficiency; HPRT deficiency, complete; Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency; Lesch-Nyhan syndrome; Lesch Nyhan disease See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases See More

Summary Summary

Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair.^[1]^[2] Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner.^[1] Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.^[2]

Last updated: 1/13/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of movement	Movement disorder Unusual movement [ more ]	0100022
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Gout		0001997
Hemiplegia/hemiparesis		0004374
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Intellectual disability, moderate	IQ between 34 and 49	0002342
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
30%-79% of people have these symptoms
Anemia	Low number of red blood cells or hemoglobin	0001903
Hematuria	Blood in urine	0000790
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function		0002071
Choreoathetosis		0001266
Dysarthria	Difficulty articulating speech	0001260
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dystonia		0001332
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hyperreflexia	Increased reflexes	0001347
Hyperuricosuria	High urine uric acid level	0003149
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Megaloblastic anemia		0001889
Motor delay		0001270
Muscular hypotonia	Low or weak muscle tone	0001252
Nephrolithiasis	Kidney stones	0000787
Opisthotonus		0002179
Podagra		0001854
Short stature	Decreased body height Small stature [ more ]	0004322
Testicular atrophy	Testicular degeneration	0000029
Vomiting	Throwing up	0002013
X-linked recessive inheritance		0001419

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Last updated: 8/7/2018

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Inheritance Inheritance

Lesch Nyhan syndrome is inherited in an X-linked recessive manner.^[3] A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. Females who have one mutated copy of the responsible gene (on one of their X chromosomes) usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition (they are affected) because they do not have another X chromosome with a working copy of the gene. This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males.

Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. This means that with each pregnancy, a female who is a carrier has a:

50% (1 in 2) chance of having an unaffected son or daughter
25% (1 in 4) chance of having an affected son
25% chance of having a carrier daughter^[3]

Last updated: 1/14/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include cerebral palsy, other causes of intellectual deficit, dystonia and self-injury including autism, Tourette syndrome, Cornelia de Lange syndrome (see these terms), idiopathic intellectual deficit, and severe psychiatric disorders. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Lesch Nyhan syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Lesch Nyhan Syndrome Children's Research Foundation
210 South Green Bay Road,
Lake Forest, IL 60045
Telephone: 847-234-3154
Fax: 847-234-3136
Lesch-Nyhan Disease International Study Group
E-mail: http://www.lesch-nyhan.org/en/contact/
Website: http://www.lesch-nyhan.org
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC, DC 20006
Toll-free: (800) 433-5255
Telephone: 202-534-3700
Fax: 202-534-3731
E-mail: info@thearc.org
Website: http://www.thearc.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Lesch Nyhan syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Lesch Nyhan syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have a friend who is a carrier for Lesch Nyhan syndrome but her partner is normal. However, they are planning to have their first child and they would like to know what the options are to prevent their child from getting the condition. See answer

Have a question? Contact a GARD Information Specialist.

References References

Lesch-Nyhan syndrome. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome.
NINDS Lesch-Nyhan Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2013; https://www.ninds.nih.gov/Disorders/All-Disorders/Lesch-Nyhan-Syndrome-Information-Page.
William L Nyhan, J Patrick O'Neill, Hyder A Jinnah, and James C Harris. Lesch-Nyhan Syndrome. GeneReviews. May 15, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1149/. Accessed 1/14/2015.

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