Overview
STT3A-CDG (also known as STT3A-Congenital Disorder of Glycosylation) is an extremely rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. The STT3A gene provides instructions for making a key part of the protein machinery that attaches sugar chains to newly made proteins in cells. When this gene does not work correctly, many proteins throughout the body do not get their sugar chains properly attached, which can cause problems in multiple organ systems. Children with STT3A-CDG typically show signs early in life, including developmental delay, intellectual disability, low muscle tone (hypotonia), seizures, and feeding difficulties. Some patients may also have vision problems, abnormal blood clotting, and liver involvement. The severity of symptoms can vary from person to person. There is currently no cure for STT3A-CDG. Treatment focuses on managing individual symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, anti-seizure medications, and nutritional support. Because the condition affects multiple body systems, care usually involves a team of different specialists working together. Research into congenital disorders of glycosylation is ongoing, and new therapies are being explored.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityLow muscle tone (floppy baby)SeizuresFeeding difficultiesFailure to thrive or poor growthVision problemsAbnormal blood clottingLiver problemsDelayed speechDifficulty with coordination and balanceFacial features that may appear slightly differentRecurrent infections
Clinical phenotype terms (13)— 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 STT3A-CDG.
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Specialists
View all specialists →No specialists are currently listed for STT3A-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 STT3A-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 symptoms should I watch for that might need urgent medical attention?,How often should my child have blood tests to check liver function and clotting?,What therapies (physical, occupational, speech) do you recommend and how often?,Are there any clinical trials or new treatments being studied for STT3A-CDG?,Should other family members be tested to see if they are carriers?,What is the best way to manage my child's seizures, and what should I do if a seizure lasts too long?,Can you connect us with other families affected by CDG or a CDG support organization?
Common questions about STT3A-CDG
What is STT3A-CDG?
STT3A-CDG (also known as STT3A-Congenital Disorder of Glycosylation) is an extremely rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. The STT3A gene provides instructions for making a key part of the protein machinery that attaches sugar chains to newly made proteins in cells. When this gene does not work correctly, many proteins throughout the body do not get their sugar chains properly attached, which can cause problems in mult
How is STT3A-CDG inherited?
STT3A-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does STT3A-CDG typically begin?
Typical onset of STT3A-CDG is infantile. Age of onset can vary across affected individuals.