Overview
PGM1-CDG, also known as Phosphoglucomutase 1 Deficiency or PGM1 Congenital Disorder of Glycosylation, is a rare inherited metabolic condition caused by changes (mutations) in the PGM1 gene. This gene provides instructions for making an enzyme called phosphoglucomutase 1, which plays a key role in how the body processes sugars, particularly glucose and galactose. When this enzyme does not work properly, the body has trouble building sugar chains (called glycans) that are attached to proteins and fats. These sugar chains are essential for many body functions. PGM1-CDG can affect many different organs and systems. Common features include liver problems, low blood sugar (hypoglycemia), blood clotting abnormalities, muscle weakness, growth delays, and a split in the roof of the mouth (cleft palate). Some patients also experience heart problems, hormonal imbalances, and skeletal issues. The severity of symptoms varies widely from person to person, even within the same family. Treatment currently focuses on managing symptoms and may include dietary supplementation with D-galactose, which has shown promise in improving glycosylation in some patients. Supportive care from a team of specialists is important. While there is no cure, ongoing research continues to improve understanding of this condition and explore new treatment options. PGM1-CDG was first described in 2012 and is sometimes referred to as CDG type It or GSD XIV (glycogen storage disease type XIV) because the enzyme deficiency also affects glycogen metabolism.
Also known as:
Key symptoms:
Low blood sugar (hypoglycemia)Liver problems including elevated liver enzymesBlood clotting abnormalities (both increased bleeding and clotting risk)Cleft palate or bifid uvula (split in the roof of the mouth)Muscle weakness and exercise intoleranceGrowth delay or short statureDelayed puberty or hormonal imbalancesHeart problems (dilated cardiomyopathy)Skeletal abnormalitiesIntellectual disability (usually mild, if present)SeizuresFatigueFrequent infectionsLow levels of certain blood proteinsAbnormal fat distribution
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for PGM1-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 PGM1-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 D-galactose supplementation appropriate for my case, and what dose should I take?,How often should my heart function be monitored with echocardiograms?,What should I do if I experience a low blood sugar episode, and when should I go to the emergency room?,Are there specific precautions I need to take before any surgery or dental procedures because of my clotting issues?,How will this condition affect my growth, puberty, and hormones, and will I need hormone treatments?,Are there any clinical trials or new treatments being studied for PGM1-CDG that I might be eligible for?,Should my siblings or other family members be tested for this condition?
Common questions about PGM1-CDG
What is PGM1-CDG?
PGM1-CDG, also known as Phosphoglucomutase 1 Deficiency or PGM1 Congenital Disorder of Glycosylation, is a rare inherited metabolic condition caused by changes (mutations) in the PGM1 gene. This gene provides instructions for making an enzyme called phosphoglucomutase 1, which plays a key role in how the body processes sugars, particularly glucose and galactose. When this enzyme does not work properly, the body has trouble building sugar chains (called glycans) that are attached to proteins and fats. These sugar chains are essential for many body functions. PGM1-CDG can affect many different
How is PGM1-CDG inherited?
PGM1-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat PGM1-CDG?
1 specialists and care centers treating PGM1-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.