Overview
SLC35A1-CDG, also known as congenital disorder of glycosylation type IIf (CDG-IIf), is an extremely rare inherited metabolic condition caused by changes (mutations) in the SLC35A1 gene. This gene provides instructions for making a protein that helps transport a sugar molecule called CMP-sialic acid into a part of the cell called the Golgi apparatus, where it is needed to properly build and modify proteins and fats on cell surfaces. When this transporter does not work correctly, many proteins in the body lack the proper sugar coatings they need to function, a process called glycosylation. The most prominent features of SLC35A1-CDG include bleeding problems due to low platelet counts (thrombocytopenia) and abnormal platelet function, recurrent infections due to immune system problems, and neurological issues such as seizures, developmental delay, and intellectual disability. Some patients also experience kidney problems and hearing loss. The severity can vary between individuals. There is currently no cure for SLC35A1-CDG. Treatment is mainly supportive and focuses on managing symptoms. Platelet transfusions may be needed for serious bleeding episodes. Infections are treated promptly with antibiotics or other medications. Seizures are managed with anti-seizure medications. Because this condition is so rare, with only a handful of patients described in the medical literature, knowledge about the full range of symptoms and best treatments continues to grow as more cases are identified.
Also known as:
Key symptoms:
Low platelet count causing easy bruising and bleedingRecurrent or severe infectionsSeizuresDevelopmental delayIntellectual disabilityHearing lossKidney problemsAbnormal bleeding that is hard to stopPoor muscle tone (floppiness)Failure to thrive or poor growthEnlarged liver or spleenAbnormal blood clotting
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 SLC35A1-CDG.
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Specialists
View all specialists →No specialists are currently listed for SLC35A1-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 SLC35A1-CDG.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 symptoms should I watch for most closely?,What is the plan for managing bleeding episodes, and when should I go to the emergency room?,Are there any experimental treatments or clinical trials available for SLC35A1-CDG?,How often should my child have blood tests, hearing tests, and kidney function checks?,What therapies (physical, occupational, speech) would benefit my child's development?,Should other family members be tested to see if they are carriers?,What precautions should we take regarding vaccinations and infection prevention?
Common questions about SLC35A1-CDG
What is SLC35A1-CDG?
SLC35A1-CDG, also known as congenital disorder of glycosylation type IIf (CDG-IIf), is an extremely rare inherited metabolic condition caused by changes (mutations) in the SLC35A1 gene. This gene provides instructions for making a protein that helps transport a sugar molecule called CMP-sialic acid into a part of the cell called the Golgi apparatus, where it is needed to properly build and modify proteins and fats on cell surfaces. When this transporter does not work correctly, many proteins in the body lack the proper sugar coatings they need to function, a process called glycosylation. The
How is SLC35A1-CDG inherited?
SLC35A1-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SLC35A1-CDG typically begin?
Typical onset of SLC35A1-CDG is infantile. Age of onset can vary across affected individuals.