Overview
Disorder of sialic acid metabolism is a group of rare inherited metabolic conditions in which the body cannot properly make, use, or recycle a sugar molecule called sialic acid (also known as neuraminic acid). Sialic acid plays an important role in many body processes, including brain development, immune function, and cell-to-cell communication. When sialic acid metabolism is disrupted, it can lead to a buildup or deficiency of sialic acid or related compounds in cells and tissues throughout the body. This group includes several specific conditions such as Salla disease (also called free sialic acid storage disease, Finnish type), infantile free sialic acid storage disease (ISSD), and sialuria. Symptoms vary widely depending on the specific type but often include intellectual disability, delayed development, movement problems, coarsened facial features, enlarged liver and spleen, and skeletal abnormalities. In severe forms like ISSD, symptoms begin at birth and can be life-threatening. In milder forms like Salla disease, symptoms develop in infancy or early childhood and progress more slowly. There is currently no cure for disorders of sialic acid metabolism. Treatment focuses on managing symptoms and supporting quality of life through physical therapy, occupational therapy, speech therapy, and medical management of complications. Research into potential therapies is ongoing, but options remain limited.
Key symptoms:
Intellectual disabilityDelayed motor developmentDifficulty walking or unsteady gaitLow muscle tone in infancyCoarse facial featuresEnlarged liverEnlarged spleenSeizuresPoor growth or failure to thriveSkeletal abnormalitiesSpeech and language delaysVision problemsInvoluntary eye movements (nystagmus)Pale skin and light hairSwelling of the body (hydrops fetalis in severe forms)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of sialic acid metabolism.
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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 Disorder of sialic acid metabolism.
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Caregiver Resources
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Family & Caregiver Grants
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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.Which specific type of sialic acid metabolism disorder does my child have, and what does that mean for their future?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or experimental treatments we should know about?,What symptoms should prompt us to seek emergency care?,How often should we schedule follow-up visits and with which specialists?,Should other family members be tested as carriers?,What educational and support services are available for our family?
Common questions about Disorder of sialic acid metabolism
What is Disorder of sialic acid metabolism?
Disorder of sialic acid metabolism is a group of rare inherited metabolic conditions in which the body cannot properly make, use, or recycle a sugar molecule called sialic acid (also known as neuraminic acid). Sialic acid plays an important role in many body processes, including brain development, immune function, and cell-to-cell communication. When sialic acid metabolism is disrupted, it can lead to a buildup or deficiency of sialic acid or related compounds in cells and tissues throughout the body. This group includes several specific conditions such as Salla disease (also called free sial
How is Disorder of sialic acid metabolism inherited?
Disorder of sialic acid metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Disorder of sialic acid metabolism?
1 specialists and care centers treating Disorder of sialic acid metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.