Overview
CAD-CDG (also known as CAD deficiency or congenital disorder of glycosylation due to CAD gene mutations) is an extremely rare inherited metabolic disorder. The CAD gene provides instructions for making a large protein that is essential for the production of pyrimidines, which are building blocks needed to make DNA, RNA, and certain sugars used in glycosylation (the process of attaching sugar molecules to proteins). When the CAD protein does not work properly, the body cannot produce enough pyrimidines, leading to problems with cell growth, brain development, and the proper decoration of proteins with sugar chains. Children with CAD-CDG typically present in early infancy or childhood with severe developmental delay, epileptic seizures that can be difficult to control, and low red blood cell counts (anemia). Many affected children also show poor muscle tone, feeding difficulties, and failure to thrive. Some patients develop problems with their blood cells and immune system. The treatment landscape for CAD-CDG has been transformed by the discovery that uridine supplementation can bypass the metabolic block. Oral uridine has shown remarkable improvement in some patients, reducing seizures and improving development when started early. This makes early diagnosis critically important. Without treatment, the disease can be progressive and life-threatening. CAD-CDG is classified under the broader group of congenital disorders of glycosylation, specifically as a disorder of multiple glycosylation pathways and other pathways.
Also known as:
Key symptoms:
Severe developmental delayEpileptic seizures that are hard to controlLow muscle tone (floppiness)Anemia (low red blood cell count)Feeding difficultiesFailure to thrive or poor weight gainIntellectual disabilityReduced or absent deep tendon reflexesMovement difficultiesSpeech delay or absence of speechLow white blood cell countRecurrent infectionsVision problemsIrritability
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 CAD-CDG.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CAD-CDG at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for CAD-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 CAD-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.Is uridine supplementation appropriate for my child, and how soon can we start?,What is the correct dose of uridine, and how should it be given?,How often will my child need blood tests to monitor anemia and blood counts?,What seizure medications work best alongside uridine treatment?,What developmental therapies should we start, and how often?,Are there any clinical trials or research studies my child could participate in?,What emergency signs should I watch for, and what should I do if they occur?
Common questions about CAD-CDG
What is CAD-CDG?
CAD-CDG (also known as CAD deficiency or congenital disorder of glycosylation due to CAD gene mutations) is an extremely rare inherited metabolic disorder. The CAD gene provides instructions for making a large protein that is essential for the production of pyrimidines, which are building blocks needed to make DNA, RNA, and certain sugars used in glycosylation (the process of attaching sugar molecules to proteins). When the CAD protein does not work properly, the body cannot produce enough pyrimidines, leading to problems with cell growth, brain development, and the proper decoration of protei
How is CAD-CDG inherited?
CAD-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CAD-CDG typically begin?
Typical onset of CAD-CDG is infantile. Age of onset can vary across affected individuals.