Overview
Disorder of protein N-glycosylation is a group of rare inherited metabolic conditions that affect how the body attaches sugar chains (called glycans) to proteins. This process, known as N-glycosylation, is essential for proteins to work properly throughout the body. When this process is disrupted, it can cause problems in many organs and systems. These disorders are part of a larger family called congenital disorders of glycosylation (CDG). Because glycosylation is needed in nearly every cell, symptoms can be wide-ranging and may include developmental delays, intellectual disability, poor muscle tone, seizures, liver problems, blood clotting issues, and failure to thrive in infancy. Some patients also experience abnormal fat distribution, eye problems, and skeletal abnormalities. The severity varies greatly depending on which specific step in the N-glycosylation pathway is affected. There is currently no cure for most disorders of protein N-glycosylation. Treatment is mainly supportive and focuses on managing individual symptoms. However, for a small number of specific subtypes, targeted therapies such as mannose supplementation (for MPI-CDG) have shown benefit. Early diagnosis and a coordinated care team are important for improving quality of life.
Key symptoms:
Developmental delayIntellectual disabilityPoor muscle tone (floppiness)SeizuresFailure to thrive or poor weight gainLiver problemsBlood clotting abnormalitiesAbnormal fat distribution (fat pads)Crossed eyes or other eye problemsSkeletal abnormalitiesHeart problemsHormonal imbalancesDigestive issues such as diarrhea or vomitingInverted nipplesRecurrent infections
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of protein N-glycosylation.
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Specialists
View all specialists →No specialists are currently listed for Disorder of protein N-glycosylation.
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 Disorder of protein N-glycosylation.
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Caregiver Resources
NORD Caregiver Resources
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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.What specific subtype of CDG does my child have, and what gene is affected?,Are there any targeted treatments available for this specific subtype?,What specialists should be part of our care team, and how often should we see them?,What are the most important warning signs I should watch for at home?,Are there any clinical trials or research studies we could participate in?,What precautions need to be taken before any surgery or dental procedure regarding blood clotting?,What is the expected developmental trajectory, and what therapies can help maximize my child's potential?
Common questions about Disorder of protein N-glycosylation
What is Disorder of protein N-glycosylation?
Disorder of protein N-glycosylation is a group of rare inherited metabolic conditions that affect how the body attaches sugar chains (called glycans) to proteins. This process, known as N-glycosylation, is essential for proteins to work properly throughout the body. When this process is disrupted, it can cause problems in many organs and systems. These disorders are part of a larger family called congenital disorders of glycosylation (CDG). Because glycosylation is needed in nearly every cell, symptoms can be wide-ranging and may include developmental delays, intellectual disability, poor mus