Overview
ALG13-CDG (also known as ALG13-congenital disorder of glycosylation) is an extremely rare genetic condition that affects how the body adds sugar chains to proteins, a process called glycosylation. The ALG13 gene provides instructions for making a protein that plays an important role in the early steps of building these sugar chains. When this gene does not work properly, many proteins throughout the body cannot function correctly, leading to problems in multiple organ systems. The condition primarily affects the brain and nervous system. Most affected individuals experience epileptic seizures that often begin in infancy and can be very difficult to control. Intellectual disability and developmental delays are common, ranging from mild to severe. Some children may also have low muscle tone (floppiness), movement difficulties, and distinctive facial features. Other possible features include liver problems, immune system issues, and feeding difficulties. There is currently no cure for ALG13-CDG. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, and providing supportive therapies such as physical therapy, occupational therapy, and speech therapy. Because the condition is so rare, knowledge about the full range of symptoms and best treatments is still growing. Research is ongoing to better understand this disorder and develop more targeted therapies.
Also known as:
Key symptoms:
Seizures that are hard to control (epilepsy)Intellectual disabilityDevelopmental delaysLow muscle tone (floppiness)Difficulty feedingSpeech and language delaysMovement and coordination problemsDistinctive facial featuresLiver problemsImmune system weaknessDelayed motor milestones like sitting and walkingAbnormal eye movementsMicrocephaly (smaller than average head size)Behavioral difficulties
Clinical phenotype terms (19)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for ALG13-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 ALG13-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 seizures does my child have, and what is the best medication plan?,Should we consider the ketogenic diet for seizure control?,What developmental therapies should we start, and how often?,How often should we monitor liver function and other organ systems?,Are there any clinical trials or research studies we could participate in?,What is the expected developmental trajectory for my child based on their specific genetic variant?,What emergency plan should we have in place for prolonged seizures?
Common questions about ALG13-CDG
What is ALG13-CDG?
ALG13-CDG (also known as ALG13-congenital disorder of glycosylation) is an extremely rare genetic condition that affects how the body adds sugar chains to proteins, a process called glycosylation. The ALG13 gene provides instructions for making a protein that plays an important role in the early steps of building these sugar chains. When this gene does not work properly, many proteins throughout the body cannot function correctly, leading to problems in multiple organ systems. The condition primarily affects the brain and nervous system. Most affected individuals experience epileptic seizures
How is ALG13-CDG inherited?
ALG13-CDG follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does ALG13-CDG typically begin?
Typical onset of ALG13-CDG is infantile. Age of onset can vary across affected individuals.
Which specialists treat ALG13-CDG?
16 specialists and care centers treating ALG13-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.