Living with PGM1-congenital disorder of glycosylation
A rare inherited condition with cleft palate or split uvula, slow growth, liver and muscle problems, and low blood sugar.
Understanding PGM1-congenital disorder of glycosylation
It is both a congenital disorder of glycosylation and a glycogen storage disease. A split uvula, with or without cleft palate, is the most common sign at birth. Other features include slow growth, liver problems, muscle weakness and exercise intolerance, low blood sugar that comes and goes, and heart muscle problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split uvula or cleft palate
- Slow growth and short height
- Liver problems
- Trouble with exercise
- Low blood sugar that comes and goes
- Stretched, weakened heart muscle (dilated cardiomyopathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in PGM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: CDG CARE, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PGM1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: cdg it; cdg syndrome type it; cdg-it; cdg1t; congenital disorder of glycosylation type 1t; congenital disorder of glycosylation type it
Patient organizations
- CDG CAREPGM1-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINPGM1-congenital disorder of glycosylation · Children's Cardiomyopathy Foundation
You are more than your diagnosis
Perspectives from people navigating life with PGM1-congenital disorder of glycosylation.
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