Living with Sialuria
A rare genetic condition that affects development, with jaundice, an enlarged liver and spleen, and coarse facial features in infants.
Understanding Sialuria
Infants may have yellow skin and eyes (jaundice), an enlarged liver and spleen, and small red blood cells (microcytic anemia). They may have a flat face with coarse features, weak muscle tone and temporary developmental delay. Young children often have colds and stomach upsets. Older children may have seizures and learning difficulties, though some have nearly normal intellect. Many problems seem to improve with age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial features
- Enlarged liver and spleen
- Low muscle tone (hypotonia)
- Delayed speech
- Mild intellectual disability
- Attention problems and hyperactivity
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 genetic specialists.
- 3Consider genetic testing
Changes in GNE 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
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
GARD lists changes in the GNE gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sialic acid storage disease; sialuria, french type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sialuria.
Explore research for Sialuria
Explore actively recruiting Sialuria studies with HealthSpark.
Find actively recruiting studies for Sialuria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Sialuria studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Sialuria
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Sialuria experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.