Overview
PGM3-CDG is a rare inherited disease caused by changes (mutations) in the PGM3 gene. PGM3 stands for phosphoglucomutase 3, and this gene provides instructions for making an enzyme that helps build certain sugar chains on proteins and fats in the body. When this enzyme does not work properly, the body cannot make enough of a sugar molecule called UDP-GlcNAc, which is needed for many important body functions. This condition belongs to a larger group of diseases called Congenital Disorders of Glycosylation (CDG), sometimes also called PGM3 deficiency or PGM3-related immune dysregulation syndrome. The disease mainly affects the immune system, skin, and skeleton. People with PGM3-CDG often have a weakened immune system, making them prone to repeated and serious infections, especially skin and lung infections caused by bacteria and fungi. Many patients also develop eczema (itchy, inflamed skin) that can be severe and hard to treat. Elevated levels of a type of immune cell called eosinophils and high levels of an antibody called IgE are commonly found in blood tests. Some patients also have skeletal problems, short stature, and features that overlap with a condition called Hyper-IgE syndrome. Treatment today focuses on managing symptoms. This includes antibiotics and antifungal medicines to prevent and treat infections, skin care routines for eczema, and sometimes immunoglobulin replacement therapy to support the immune system. There is currently no cure, but careful medical management can significantly improve quality of life and reduce complications.
Also known as:
Key symptoms:
Repeated serious skin infections, often caused by bacteria or fungiSevere eczema (red, itchy, inflamed skin) that is hard to controlRecurring lung infections or pneumoniaVery high levels of IgE antibody in the bloodHigh numbers of eosinophils (a type of white blood cell) in the bloodShort stature or slow growthSkeletal abnormalities such as scoliosis or unusual bone structureDelayed loss of baby teethRecurrent ear or sinus infectionsWeakened immune system leading to frequent or unusual infectionsSkin abscesses (painful pus-filled lumps under the skin)Coarse facial features in some patientsNail abnormalities
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for PGM3-CDG.
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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
No travel grants are currently matched to PGM3-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 specific mutations were found in my child's PGM3 gene, and what do they mean for their prognosis?,Which preventive medicines does my child need, and for how long?,Should we consider bone marrow transplantation, and if so, when and where?,Are there any vaccines my child should avoid because of their weakened immune system?,What signs of infection should prompt an emergency room visit versus a regular doctor call?,Should other family members be tested for PGM3 mutations?,Are there any clinical trials or research studies we should know about?
Common questions about PGM3-CDG
What is PGM3-CDG?
PGM3-CDG is a rare inherited disease caused by changes (mutations) in the PGM3 gene. PGM3 stands for phosphoglucomutase 3, and this gene provides instructions for making an enzyme that helps build certain sugar chains on proteins and fats in the body. When this enzyme does not work properly, the body cannot make enough of a sugar molecule called UDP-GlcNAc, which is needed for many important body functions. This condition belongs to a larger group of diseases called Congenital Disorders of Glycosylation (CDG), sometimes also called PGM3 deficiency or PGM3-related immune dysregulation syndrome.
How is PGM3-CDG inherited?
PGM3-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PGM3-CDG typically begin?
Typical onset of PGM3-CDG is childhood. Age of onset can vary across affected individuals.