Overview
MAN1B1-CDG (also known as MAN1B1-congenital disorder of glycosylation, or formerly congenital disorder of glycosylation type IIu) is a rare inherited metabolic condition that affects how the body processes sugars attached to proteins, a process called glycosylation. It is caused by changes (mutations) in the MAN1B1 gene, which provides instructions for making an enzyme involved in trimming sugar chains on proteins inside cells. When this enzyme does not work properly, proteins do not get the correct sugar modifications they need to function normally. The condition primarily affects the brain and development. Most individuals with MAN1B1-CDG have intellectual disability, which can range from mild to moderate. Delayed speech and motor development are common, and many children take longer to reach milestones like walking and talking. Some individuals may also have behavioral issues, obesity, and distinctive facial features. Seizures have been reported in some cases but are not universal. There is currently no cure for MAN1B1-CDG. Treatment is supportive and focuses on managing symptoms. This includes speech therapy, physical therapy, occupational therapy, and educational support to help individuals reach their full potential. Behavioral interventions and weight management strategies may also be important parts of care. Research into congenital disorders of glycosylation is ongoing, and scientists continue to work toward better understanding and potential therapies for this group of conditions.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate)Delayed speech developmentDelayed motor milestones (late walking)Obesity or tendency to gain weight easilyBehavioral problemsDistinctive facial featuresLow muscle tone (feeling floppy as a baby)Seizures in some individualsShort stature in some casesDifficulty with fine motor skillsLearning difficultiesSocial and emotional challenges
Clinical phenotype terms (50)— 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 MAN1B1-CDG.
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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 MAN1B1-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 type of MAN1B1 mutations does my child have, and what do they mean for the expected course of the condition?,What therapies (speech, physical, occupational) should we start, and how often?,How should we monitor and manage weight gain?,Does my child need seizure monitoring or an EEG?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?,What is the chance of having another child with this condition, and should we consider genetic counseling?
Common questions about MAN1B1-CDG
What is MAN1B1-CDG?
MAN1B1-CDG (also known as MAN1B1-congenital disorder of glycosylation, or formerly congenital disorder of glycosylation type IIu) is a rare inherited metabolic condition that affects how the body processes sugars attached to proteins, a process called glycosylation. It is caused by changes (mutations) in the MAN1B1 gene, which provides instructions for making an enzyme involved in trimming sugar chains on proteins inside cells. When this enzyme does not work properly, proteins do not get the correct sugar modifications they need to function normally. The condition primarily affects the brain
How is MAN1B1-CDG inherited?
MAN1B1-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does MAN1B1-CDG typically begin?
Typical onset of MAN1B1-CDG is infantile. Age of onset can vary across affected individuals.
Which specialists treat MAN1B1-CDG?
16 specialists and care centers treating MAN1B1-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.