Overview
Salla disease, also known as free sialic acid storage disease or sialuria Finnish type, is a rare inherited metabolic disorder that belongs to the group of lysosomal storage diseases. It is caused by a problem with how the body handles a sugar molecule called sialic acid (also known as N-acetylneuraminic acid). Normally, sialic acid is transported out of tiny compartments in cells called lysosomes after it has been used. In Salla disease, this transport system does not work properly, so sialic acid builds up inside the lysosomes, especially in the brain and other organs. This buildup damages cells over time. The disease typically becomes noticeable in infancy or early childhood. Affected children usually show delayed development, low muscle tone (hypotonia), and difficulty with movement and coordination (ataxia). Over time, most individuals develop intellectual disability that ranges from moderate to severe. Many children learn to walk, though often later than expected, and some develop the ability to speak a few words. Seizures can occur in some patients. The disease progresses slowly compared to the more severe form of sialic acid storage disease known as infantile sialic acid storage disease (ISSD). There is currently no cure for Salla disease. Treatment focuses on managing symptoms and supporting the individual's quality of life. Physical therapy, occupational therapy, speech therapy, and seizure management are the main approaches. Research into potential therapies is ongoing, but no disease-modifying treatments are currently available.
Key symptoms:
Delayed motor development (late sitting, late walking)Intellectual disability (moderate to severe)Low muscle tone (floppiness) in infancyDifficulty with balance and coordination (ataxia)Speech delay or limited speechInvoluntary rapid eye movements (nystagmus)Seizures or epilepsySpasticity (stiff muscles) that develops over timeCoarse facial features in some individualsShort statureThickened skinEnlarged liver or spleen in some casesDifficulty with fine motor skillsBehavioral challenges
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Salla disease.
View clinical trials →Clinical Trials
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Salla disease.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected progression of symptoms for my child's specific case of Salla disease?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies we could participate in?,How should we monitor for and manage seizures?,What educational and support services are available for my child?,Should other family members be tested to see if they are carriers?,What should we do in case of a medical emergency related to this condition?
Common questions about Salla disease
What is Salla disease?
Salla disease, also known as free sialic acid storage disease or sialuria Finnish type, is a rare inherited metabolic disorder that belongs to the group of lysosomal storage diseases. It is caused by a problem with how the body handles a sugar molecule called sialic acid (also known as N-acetylneuraminic acid). Normally, sialic acid is transported out of tiny compartments in cells called lysosomes after it has been used. In Salla disease, this transport system does not work properly, so sialic acid builds up inside the lysosomes, especially in the brain and other organs. This buildup damages c
How is Salla disease inherited?
Salla disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Salla disease typically begin?
Typical onset of Salla disease is infantile. Age of onset can vary across affected individuals.
Which specialists treat Salla disease?
1 specialists and care centers treating Salla disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.