Overview
Congenital disorder of glycosylation with hepatic involvement (CDG with liver involvement) is a group of rare inherited metabolic conditions that affect how the body adds sugar chains (called glycans) to proteins and fats. This process, known as glycosylation, is essential for many body functions. When glycosylation does not work properly, it can affect many organs, but in this particular group of disorders, the liver is especially impacted. Patients may experience liver enlargement, abnormal liver function tests, liver fibrosis or scarring, and in some cases liver failure. Because glycosylation is important throughout the body, patients often also have problems beyond the liver, including developmental delays, failure to thrive, low blood sugar, blood clotting problems, and digestive issues. Symptoms usually appear in infancy or early childhood, though the severity can vary widely depending on the specific genetic cause. Diagnosis typically involves blood tests that look at the pattern of sugar chains on a protein called transferrin, followed by genetic testing to identify the exact gene involved. There is currently no cure for most forms of CDG with hepatic involvement. Treatment is mainly supportive and focuses on managing symptoms, protecting the liver, correcting nutritional deficiencies, and addressing complications as they arise. In rare cases, liver transplantation may be considered for severe liver failure. Research into targeted therapies, including sugar supplementation for certain subtypes, is ongoing and offers hope for improved treatments in the future.
Also known as:
Key symptoms:
Enlarged liver (hepatomegaly)Abnormal liver function blood testsLiver fibrosis or scarringFailure to thrive or poor weight gainLow blood sugar (hypoglycemia)Blood clotting problems or easy bruisingDevelopmental delaysIntellectual disabilityLow muscle tone (floppiness)Diarrhea or other digestive problemsFluid buildup in the belly (ascites)Jaundice (yellowing of skin and eyes)Protein-losing enteropathy (losing protein through the gut)Recurrent infectionsSeizures
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 Congenital disorder of glycosylation with hepatic involvement.
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Specialists
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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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of CDG does my child have, and which gene is affected?,Is there a targeted treatment available for this specific subtype, such as mannose supplementation?,How often should liver function and blood clotting be monitored?,What are the warning signs that the liver disease is getting worse?,What developmental therapies should we start, and how soon?,Should we see a liver transplant team, and under what circumstances would transplant be considered?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Congenital disorder of glycosylation with hepatic involvement
What is Congenital disorder of glycosylation with hepatic involvement?
Congenital disorder of glycosylation with hepatic involvement (CDG with liver involvement) is a group of rare inherited metabolic conditions that affect how the body adds sugar chains (called glycans) to proteins and fats. This process, known as glycosylation, is essential for many body functions. When glycosylation does not work properly, it can affect many organs, but in this particular group of disorders, the liver is especially impacted. Patients may experience liver enlargement, abnormal liver function tests, liver fibrosis or scarring, and in some cases liver failure. Because glycosylati
How is Congenital disorder of glycosylation with hepatic involvement inherited?
Congenital disorder of glycosylation with hepatic involvement follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital disorder of glycosylation with hepatic involvement typically begin?
Typical onset of Congenital disorder of glycosylation with hepatic involvement is infantile. Age of onset can vary across affected individuals.