Living with Glycogen storage disease, type I
A group of inherited metabolic diseases with poor tolerance of fasting, slow growth, and an enlarged liver.
Understanding Glycogen storage disease, type I
Glycogen and fat build up in the liver. The main features are poor tolerance of fasting, slow growth, and an enlarged liver (hepatomegaly). It is usually noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor tolerance of fasting
- Slow growth and short stature
- Full cheeks
- Low muscle tone (hypotonia)
- Recurrent infections
- Seizures
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 kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Association for Glycogen Storage Disease 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 genes cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene here.
Also known as: deficiency of glucose-6-phosphatase; g6p deficiency; glycogen storage disease due to g6p deficiency; glycogen storage disease due to glucose-6-phosphatase deficiency; glycogen storage disease i; glycogen storage disease type 1
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease, type I · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease, type I.
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