Sialuria: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Sialuria?
A primary care doctor, such as a pediatrician or family doctor, is usually the first person families turn to. Because sialuria is so rare, they often work with specialists, including a geneticist, a neurologist, and therapists. A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance.
What it is
Sialuria is a very rare condition that a child is born with, caused by a change in a gene. The changed gene causes a sugar-like substance called sialic acid to build up in the body. Doctors have described only a small number of cases worldwide.
Symptoms
The signs usually show up in infancy. Babies may have weak or floppy muscles, called hypotonia. Growth may be slower than expected, and some children have developmental delay, reaching milestones like sitting or talking later than others.
Causes and who gets it
Sialuria is caused by a change in a gene called GNE, which normally helps control how much sialic acid the body makes. When the gene does not work properly, too much sialic acid builds up inside cells. The condition is inherited in an autosomal dominant pattern, meaning a child only needs one changed copy of the gene.
How doctors diagnose it
Doctors often start by looking at the child's symptoms and growth history. A urine test can show very high levels of sialic acid, a strong clue. Genetic testing can confirm the diagnosis by finding the change in the GNE gene, using a blood or saliva sample.
Treatment
There is no cure and no standard treatment that removes the extra sialic acid. Care focuses on each child's symptoms, and may include physical therapy, speech therapy, and medicines to control seizures. Regular checkups help doctors watch growth and development over time.
When to see a doctor
Parents should talk to a doctor if a baby or child has floppy muscles, slow growth, or is late to reach milestones. Any seizure also needs prompt medical attention. For a child already diagnosed with sialuria, any new symptom is a reason to call the care team.
Common questions
Is sialuria life threatening?
Only a small number of cases have been reported. Because of this, there is limited long-term information. Some reported children have had serious health problems, while outcomes differ from person to person. Families should discuss their child's specific situation with their care team.
Can sialuria be prevented?
There is no known way to prevent sialuria. It is caused by a gene change that happens before birth. Families with a history of the condition can speak with a genetic counselor, a trained expert who explains inherited conditions and testing options.
Is sialuria the same as sialidosis?
No. The names sound similar, but they are different conditions. Sialidosis is caused by a missing enzyme, a protein that helps chemical reactions in the body. Sialuria, by contrast, is caused by the body making too much sialic acid.
Will my other children have it?
Sialuria is inherited in an autosomal dominant pattern. A parent who carries the changed gene has a one in two chance of passing it on in each pregnancy. In many cases the gene change is new, and neither parent has it. A genetic counselor can help a family understand its specific risk.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
