and the Kidneys
Uric Acid
Understanding Uric Acid in Lesch-Nyhan disease (Syndrome)
Living with Lesch-Nyhan disease (Syndrome) means learning about how the body processes certain natural substances. One of the most important to understand is uric acid. Keeping uric acid levels within a healthy range helps prevent pain, kidney problems, and long-term complications — and it’s something parents and care teams can work together to manage.
What Is Uric Acid?
Uric acid is a natural chemical your body makes when it breaks down purines — substances found in all our cells and in some foods. Normally, the body filters uric acid through the kidneys and removes it in urine.
In Lesch-Nyhan disease (Syndrome), the enzyme HGprt (hypoxanthine-guanine phosphoribosyltransferase) doesn’t work properly. This enzyme helps recycle purines, and when it’s missing or low, uric acid builds up in the blood and urine.
Why Uric Acid Levels Matter
Too much uric acid in the body can lead to several problems over time, including:
Kidney stones or “orange sand” crystals in the urine (sometimes seen in infants’ diapers).
Joint pain or swelling, similar to gout.
Discomfort or urinary tract issues due to crystal buildup.
Long-term kidney damage if uric acid stays high for too long.
By keeping uric acid levels within a healthy range, families can help prevent these complications and support better overall comfort and health.
Monitoring and Management
Your child’s doctor will usually check uric acid levels with simple blood and urine tests on a regular schedule.
If levels are high, treatment may include:
Allopurinol, a common medication that helps lower uric acid production.
Adequate hydration, encouraging plenty of fluids throughout the day.
Balanced nutrition, avoiding excessive purine-rich foods when recommended by your care team.
Even with treatment, it’s important to keep track of any changes in urine color, discomfort, or new symptoms — and share them with your medical provider.
⚠️ When Uric Acid Is Too Low: Xanthine Stones
While much of the focus is on high uric acid, it’s also possible for levels to become too low, especially if medications like allopurinol are used in higher doses. When uric acid drops too far, the body can form xanthine crystals or stones.
Xanthine stones are less soluble in water than uric acid crystals, making them harder to pass and potentially more painful.
They can cause urinary discomfort, blockages, or kidney problems if not monitored.
Symptoms may include changes in urine color, pain, or difficulty urinating.
How families can help:
Work closely with your child’s doctor to keep uric acid in the target range — not too high, not too low.
Ensure adequate hydration so crystals are less likely to accumulate.
Report any unusual signs, like pain during urination or cloudy urine, to your healthcare team promptly.
Balancing uric acid is a careful process, but regular testing and good communication with your medical team can help prevent complications from either extreme.
What Parents Can Watch For
Reddish-orange “sand” or crystal-like particles in the diaper or urine.
Changes in urination or signs of discomfort.
Unexplained irritability or crying, which may signal pain.
If you notice any of these signs, it’s best to contact your doctor promptly
Working Together for Long-Term Health
Managing uric acid is a team effort. Parents, pediatricians, nephrologists, and metabolic specialists all play a role in helping children with Lesch-Nyhan stay healthy and comfortable.
You don’t have to do it alone — Love Never Sinks is here to help families learn, connect, and find the resources they need to navigate care confidently.
Quick Takeaway
Keeping uric acid within a healthy range helps protect the kidneys, prevent pain, and support better quality of life for individuals with Lesch-Nyhan Syndrome.
If your child has recently been diagnosed with Lesch-Nyhan, it's important to understand the signs and symptoms associated with the condition. This information can help you better understand the individual’s needs and advocate for appropriate care.
Children and adults with Lesch-Nyhan may experience a variety of symptoms, including self-injurious behavior, neurological problems, motor difficulties, kidney stones, and gout. However, it's important to remember that each individual's experience with the condition will be unique.
If you have any questions or concerns about your child's or adult’s symptoms, please talk to your doctor. They can help you understand the individual’s specific needs and provide appropriate care.