Overview
Oligosaccharidosis is a group of rare inherited metabolic diseases where the body cannot properly break down certain sugar chains called oligosaccharides. These sugar chains normally attach to proteins and fats in the body, but in people with oligosaccharidosis, specific enzymes (proteins that act like chemical scissors) are missing or not working correctly. Without these enzymes, oligosaccharides build up inside cells — especially in a part of the cell called the lysosome — causing damage over time. This group of diseases is also sometimes called 'oligosaccharide storage disorders' or 'glycoproteinoses.' Because these sugar chains are found throughout the body, the buildup can affect many organs and systems, including the brain, liver, spleen, bones, heart, and skin. The specific symptoms depend on which enzyme is missing, but many people with these conditions experience intellectual disability, coarse facial features, enlarged organs, and problems with movement. Some forms are more severe than others. There is currently no cure for most oligosaccharidoses. Treatment focuses on managing symptoms, improving quality of life, and supporting development. Research into enzyme replacement therapy and gene therapy is ongoing for some forms. Early diagnosis is important because some supportive treatments work best when started early.
Key symptoms:
Intellectual disability or learning difficultiesCoarse or unusual facial featuresEnlarged liver and/or spleenBone and joint problems, including short statureMuscle weakness or poor muscle toneRecurrent respiratory infectionsHearing lossVision problems, including clouding of the eye lensSkin changes or thickeningSeizuresSpeech and language delaysBehavioral changes or regression (loss of previously learned skills)Heart valve abnormalities
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 Oligosaccharidosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Oligosaccharidosis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Oligosaccharidosis.
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 Oligosaccharidosis.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific subtype of oligosaccharidosis does my child have, and how does that affect their outlook?,Is enzyme replacement therapy or bone marrow transplantation an option for our subtype, and should we act quickly?,What therapies — physical, speech, occupational — should we start right away?,Are there any clinical trials or research studies we should consider enrolling in?,What signs of worsening should prompt us to seek emergency care?,Should other family members be tested, and what are the chances of having another affected child?,What support services and specialist referrals do you recommend for our family?
Common questions about Oligosaccharidosis
What is Oligosaccharidosis?
Oligosaccharidosis is a group of rare inherited metabolic diseases where the body cannot properly break down certain sugar chains called oligosaccharides. These sugar chains normally attach to proteins and fats in the body, but in people with oligosaccharidosis, specific enzymes (proteins that act like chemical scissors) are missing or not working correctly. Without these enzymes, oligosaccharides build up inside cells — especially in a part of the cell called the lysosome — causing damage over time. This group of diseases is also sometimes called 'oligosaccharide storage disorders' or 'glycop
How is Oligosaccharidosis inherited?
Oligosaccharidosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oligosaccharidosis typically begin?
Typical onset of Oligosaccharidosis is infantile. Age of onset can vary across affected individuals.