Overview
SLC35A2-CDG, also known as SLC35A2-congenital disorder of glycosylation, is a rare genetic condition that affects how the body adds sugar molecules to proteins and fats — a process called glycosylation. This process is essential for many body functions, and when it doesn't work properly, it can cause problems in multiple organs, especially the brain. Most children with SLC35A2-CDG experience seizures that often begin in infancy, along with developmental delays and intellectual disability. Many children have low muscle tone (feeling floppy), difficulty feeding, and may show unusual eye movements. Some children also have distinctive facial features, skeletal abnormalities, and problems with growth. The severity can vary widely from person to person — some individuals are more mildly affected while others have significant challenges. There is currently no cure for SLC35A2-CDG. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications. Some patients have shown improvement with oral galactose supplementation, which may help improve the glycosylation process. Physical therapy, occupational therapy, and speech therapy are important parts of ongoing care. Research into better treatments is actively ongoing, and early diagnosis can help families access supportive care sooner.
Also known as:
Key symptoms:
Seizures, often starting in infancyDevelopmental delayIntellectual disabilityLow muscle tone (floppiness)Difficulty feedingPoor growth or failure to thriveAbnormal eye movementsSpeech and language delaysDifficulty walking or delayed motor milestonesUnusual facial featuresSkeletal abnormalitiesBrain abnormalities seen on MRIShort statureBlood clotting problemsLiver function abnormalities
Clinical phenotype terms (50)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for SLC35A2-CDG.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for SLC35A2-CDG at this time.
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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 SLC35A2-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 form of SLC35A2-CDG, and what can we expect in terms of development?,Would oral galactose supplementation be appropriate, and how would we monitor its effectiveness?,What is the best seizure management plan, and when should we go to the emergency room for a seizure?,What therapies should we start right away to support my child's development?,Are there any clinical trials or research studies we should consider enrolling in?,How often should we have blood work and other monitoring tests done?,Should other family members be tested, and what is the chance of this happening in a future pregnancy?
Common questions about SLC35A2-CDG
What is SLC35A2-CDG?
SLC35A2-CDG, also known as SLC35A2-congenital disorder of glycosylation, is a rare genetic condition that affects how the body adds sugar molecules to proteins and fats — a process called glycosylation. This process is essential for many body functions, and when it doesn't work properly, it can cause problems in multiple organs, especially the brain. Most children with SLC35A2-CDG experience seizures that often begin in infancy, along with developmental delays and intellectual disability. Many children have low muscle tone (feeling floppy), difficulty feeding, and may show unusual eye movemen
How is SLC35A2-CDG inherited?
SLC35A2-CDG follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SLC35A2-CDG typically begin?
Typical onset of SLC35A2-CDG is neonatal. Age of onset can vary across affected individuals.
Which specialists treat SLC35A2-CDG?
16 specialists and care centers treating SLC35A2-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.