Overview
SLC39A8-CDG (also known as SLC39A8-related congenital disorder of glycosylation, or CDG type IIn) is an extremely rare inherited metabolic condition caused by changes (mutations) in the SLC39A8 gene. This gene provides instructions for making a protein that helps transport manganese and other metals into cells. Manganese is essential for many enzymes to work properly, including those involved in glycosylation — the process of attaching sugar molecules to proteins. When this transporter does not work correctly, manganese levels in the blood drop very low, and glycosylation becomes impaired, leading to problems throughout the body. Children with SLC39A8-CDG typically present in infancy with a range of serious symptoms. These can include intellectual disability, seizures, short stature, hearing loss, and vision problems. Many affected children have skeletal abnormalities such as dwarfism and cranial malformations. Low muscle tone (hypotonia) and movement disorders, including dystonia, are also common. Some children develop Leigh-like syndrome, a severe brain condition. The treatment landscape for SLC39A8-CDG has shown promise with manganese supplementation, which can partially restore manganese levels and improve glycosylation. Galactose supplementation has also been used alongside manganese in some patients. While these treatments have led to meaningful improvements in some individuals, the condition remains serious and requires ongoing management by a team of specialists.
Also known as:
Key symptoms:
Intellectual disabilitySeizuresShort stature or dwarfismLow muscle tone (floppiness)Movement problems such as dystoniaHearing lossVision problemsCranial (skull) abnormalitiesSkeletal abnormalitiesDelayed developmentDifficulty with balance and coordinationFeeding difficultiesRecurrent infectionsBrain abnormalities on MRI (Leigh-like pattern)Failure to thrive
Clinical phenotype terms (41)— 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 SLC39A8-CDG.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for SLC39A8-CDG at this time.
New trials open frequently. Follow this disease to get notified.
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 SLC39A8-CDG.
Community
No community posts yet. Be the first to share your experience with SLC39A8-CDG.
Start the conversation →Latest news about SLC39A8-CDG
No recent news articles for SLC39A8-CDG.
Follow this condition to be notified when news becomes available.
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 is the recommended dose of manganese supplementation for my child, and how will you monitor for safe levels?,Should galactose supplementation also be considered?,How often should blood tests and imaging be repeated to track progress?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies my child could participate in?,What is the expected developmental trajectory for my child given their specific mutations?,What emergency signs should I watch for, and what should I do if they occur?
Common questions about SLC39A8-CDG
What is SLC39A8-CDG?
SLC39A8-CDG (also known as SLC39A8-related congenital disorder of glycosylation, or CDG type IIn) is an extremely rare inherited metabolic condition caused by changes (mutations) in the SLC39A8 gene. This gene provides instructions for making a protein that helps transport manganese and other metals into cells. Manganese is essential for many enzymes to work properly, including those involved in glycosylation — the process of attaching sugar molecules to proteins. When this transporter does not work correctly, manganese levels in the blood drop very low, and glycosylation becomes impaired, lea
How is SLC39A8-CDG inherited?
SLC39A8-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SLC39A8-CDG typically begin?
Typical onset of SLC39A8-CDG is infantile. Age of onset can vary across affected individuals.
Which specialists treat SLC39A8-CDG?
10 specialists and care centers treating SLC39A8-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.