Living with Lesch-Nyhan syndrome
An inherited condition, mostly in males, that affects movement and behavior and causes too much uric acid.
Understanding Lesch-Nyhan syndrome
The body makes too much uric acid, which can cause gout and kidney or bladder stones. People may have involuntary muscle movements and usually use a wheelchair. Self-injury, such as biting and head banging, is the most common and distinctive behavior problem. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormal movements
- Self-injury and other behavior changes
- Gout (joint pain from uric acid)
- Blood in the urine
- Muscle stiffness (spasticity)
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in HPRT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Lesch-Nyhan Dedicated Advocates and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HPRT1 gene. It is inherited in an X-linked way.
Also known as: choreoathetosis self-mutilation syndrome; complete hgprt deficiency; complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hg-prt deficiency; hgprt deficiency; hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency
Patient organizations
- Lesch-Nyhan Dedicated AdvocatesLesch-Nyhan syndrome · United States
- Love Never SinksLesch-Nyhan syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lesch-Nyhan syndrome.
Explore research for Lesch-Nyhan syndrome
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