Overview
STT3B-CDG (also known as STT3B-congenital disorder of glycosylation) is an extremely rare inherited metabolic condition that affects how the body attaches sugar molecules to proteins, a process called glycosylation. This process is essential for many proteins to work properly throughout the body. The STT3B gene provides instructions for making a part of the protein complex responsible for this sugar attachment process in cells. When the STT3B gene has harmful changes (mutations), the glycosylation process does not work correctly, which can lead to problems in multiple organ systems. People with STT3B-CDG may experience intellectual disability, developmental delays, seizures, and problems with muscle tone. Some individuals may also have vision problems, feeding difficulties, and distinctive facial features. The severity of symptoms can vary from person to person. Because this condition is so rare, the full range of symptoms is still being understood as more patients are identified. There is currently no cure for STT3B-CDG. Treatment focuses on managing individual symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, anti-seizure medications, and nutritional support. A team of specialists typically works together to address the various needs of affected individuals. Early intervention and ongoing monitoring are important to optimize quality of life.
Also known as:
Key symptoms:
Intellectual disabilityDevelopmental delaysSeizuresLow muscle tone (floppiness)Feeding difficultiesFailure to thrive or poor growthDistinctive facial featuresVision problemsSpeech and language delaysDelayed motor milestones like sitting and walkingBehavioral difficultiesAbnormal blood clotting
Clinical phenotype terms (17)— hover any for plain English
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 STT3B-CDG.
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Specialists
View all specialists →No specialists are currently listed for STT3B-CDG.
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 STT3B-CDG.
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.What specific mutations were found in my child's STT3B gene, and what do they mean for prognosis?,What therapies should we start right away to support development?,How should we monitor and manage seizures?,Are there any dietary or nutritional changes that could help?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested to see if they are carriers?
Common questions about STT3B-CDG
What is STT3B-CDG?
STT3B-CDG (also known as STT3B-congenital disorder of glycosylation) is an extremely rare inherited metabolic condition that affects how the body attaches sugar molecules to proteins, a process called glycosylation. This process is essential for many proteins to work properly throughout the body. The STT3B gene provides instructions for making a part of the protein complex responsible for this sugar attachment process in cells. When the STT3B gene has harmful changes (mutations), the glycosylation process does not work correctly, which can lead to problems in multiple organ systems. People wi
How is STT3B-CDG inherited?
STT3B-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does STT3B-CDG typically begin?
Typical onset of STT3B-CDG is infantile. Age of onset can vary across affected individuals.