Sialic Acid Storage Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Sialic Acid Storage Disease?
A primary care doctor, such as a pediatrician or family doctor, usually notices the first signs and coordinates care. Children are usually referred to specialists, which may include a neurologist for brain and nerve problems and a geneticist for inherited conditions.
What it is
Sialic acid storage disease is a rare inherited condition in which the body cannot move a natural sugar called sialic acid out of lysosomes, the recycling centers inside cells. The sugar builds up and damages tissues over time. Doctors group the disease into three forms: a severe form that starts before birth or in infancy, a milder, slowly progressing form called Salla disease, and an intermediate form between the two.
Symptoms
Symptoms vary depending on the form. Babies with the severe form may be born early and have fluid buildup and serious problems with the heart, liver, and nervous system. Children with Salla disease often have floppy muscles and delays in sitting, standing, and talking, and many develop intellectual disability over time. Some have seizures, trouble with balance and walking, coarse facial features, an enlarged liver or spleen, or slow growth.
Causes and who gets it
The disease is caused by changes in the SLC17A5 gene, which provides instructions for a protein that moves sialic acid out of lysosomes. A child gets the disease only when both parents pass on a changed copy of the gene. It is very rare, though it is more common in Finland.
How doctors diagnose it
Doctors often start by measuring sialic acid in a urine sample, which is usually high in people with this disease. Genetic testing can confirm the diagnosis.
Treatment
There is no cure yet, so treatment focuses on easing symptoms and supporting development. Care may include physical, occupational, and speech therapy, medicines to control seizures, feeding support, and treatment for heart and liver problems.
When to see a doctor
Talk to a doctor if a baby or child has floppy muscles, delays in sitting, standing, or talking, seizures, or slow growth. Seek care quickly for an unusual seizure or trouble breathing. Families with a history of the disease can ask about genetic counseling.
How a direct primary care or concierge doctor fits in
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. Either type can spend extra time coordinating care for a complex condition, managing checkups, ordering tests, and referring to specialists.
Common questions
Is sialic acid storage disease the same as Salla disease?
Salla disease is the milder, slower-moving form of sialic acid storage disease. The severe form is sometimes called infantile sialic acid storage disease. All forms come from changes in the same gene.
Can adults have this condition?
The disease starts in infancy, so it is usually diagnosed in babies and young children. People with the milder Salla form can live into adulthood. However, symptoms continue and often slowly progress.
Can it be prevented?
There is no way to prevent the disease itself, because it is inherited. Families with a history of the condition can talk to a genetic counselor about carrier testing and options during pregnancy.
How long do people with this disease live?
Life expectancy differs from person to person and depends on the form of the disease. The severe form can be life-threatening in infancy or early childhood. People with Salla disease often live into adulthood.
Sources
- MedlinePlus - Free sialic acid storage disorder
- MedlinePlus - Free sialic acid storage disorder: MedlinePlus Genetics
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.
