Overview
DDOST-CDG, also known as CDG type Ir or congenital disorder of glycosylation type Ir, is an extremely rare inherited metabolic condition caused by changes (mutations) in the DDOST gene. This gene provides instructions for making a protein called oligosaccharyltransferase (OST) 48 kDa subunit, which plays a key role in a process called glycosylation. Glycosylation is the attachment of sugar molecules to proteins, which is essential for proteins to work properly throughout the body. When this process is disrupted, many organs and systems can be affected. Patients with DDOST-CDG typically present in infancy or early childhood with developmental delay, intellectual disability, low muscle tone (hypotonia), feeding difficulties, and failure to thrive. Some patients may also experience liver problems, seizures, and distinctive facial features. The severity of symptoms can vary between individuals. There is currently no cure for DDOST-CDG. Treatment is supportive and focuses on managing individual symptoms. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to control seizures if they occur. A team of specialists is usually needed to provide comprehensive care. Because this condition is so rare, with only a handful of cases reported in the medical literature, knowledge about the full range of symptoms and long-term outcomes continues to grow as more patients are identified.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityLow muscle tone (floppiness)Feeding difficulties in infancyFailure to thrive or poor weight gainSeizuresLiver problemsDistinctive facial featuresShort statureVision problemsDelayed speech and languageDifficulty with coordination and movement
Clinical phenotype terms (23)— 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 DDOST-CDG.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for DDOST-CDG at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for DDOST-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 DDOST-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.How severe is my child's glycosylation defect, and what organs are most affected?,What therapies should we start right away to support development?,How often should liver function and other blood tests be monitored?,Are there any clinical trials or emerging treatments for DDOST-CDG or related CDG conditions?,What seizure warning signs should I watch for, and what is the emergency plan?,Should my child see any additional specialists beyond the current care team?,What genetic counseling is available for our family regarding future pregnancies?
Common questions about DDOST-CDG
What is DDOST-CDG?
DDOST-CDG, also known as CDG type Ir or congenital disorder of glycosylation type Ir, is an extremely rare inherited metabolic condition caused by changes (mutations) in the DDOST gene. This gene provides instructions for making a protein called oligosaccharyltransferase (OST) 48 kDa subunit, which plays a key role in a process called glycosylation. Glycosylation is the attachment of sugar molecules to proteins, which is essential for proteins to work properly throughout the body. When this process is disrupted, many organs and systems can be affected. Patients with DDOST-CDG typically presen
How is DDOST-CDG inherited?
DDOST-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DDOST-CDG typically begin?
Typical onset of DDOST-CDG is infantile. Age of onset can vary across affected individuals.