Living with Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
An inherited condition in which glycogen and fat build up in the liver and kidneys, causing an enlarged liver, low blood sugar, and slow growth.
Understanding Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen builds up especially in the liver, kidneys, and small intestines, which makes it harder for them to work normally. Some newborns have severe low blood sugar, but it is more common for infants to show signs at age 3 to 4 months. Reduced platelet function can lead to a bleeding tendency, and frequent nosebleeds are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists an enlarged liver as the most common, and the summary describes these:
- Enlarged liver (hepatomegaly)
- Slow growth and short stature
- Low blood sugar, sometimes with seizures
- Frequent nosebleeds and a bleeding tendency
- Protruding belly
- Diarrhea
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.
- 3Consider genetic testing
Changes in G6PC1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the G6PC gene cause too little glucose-6-phosphatase enzyme activity. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: g6p deficiency type 1a; g6pc glycogen storage disease; glucose-6-phosphatase deficiency; glucose-6-phosphatase deficiency glycogen storage disease; glycogen storage disease caused by mutation in g6pc; glycogen storage disease due to g6p deficiency type ia
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease due to glucose-6-phosphatase deficiency type IA · United States
- The Children's Fund for Glycogen Storage Disease ResearchGlycogen storage disease due to glucose-6-phosphatase deficiency type IA · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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