Living with Glycogen storage disorder due to hepatic glycogen synthase deficiency
Also called glycogen storage disease type 0 (liver): the body can't form glycogen in the liver, causing symptoms when fasting.
Understanding Glycogen storage disorder due to hepatic glycogen synthase deficiency
Glycogen is a major source of stored energy. In the liver type, short-term signs such as extreme tiredness, pale skin, and nausea can happen after fasting, for example in infants when late-night feedings stop. Blood ketone levels may rise during fasting, and signs often improve after eating. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists irritability as common, and the summary describes these:
- Irritability
- Extreme tiredness (lethargy)
- Pale skin
- Nausea
- Higher ketone levels in the blood during fasting
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 genetic specialists.
- 3Consider genetic testing
Changes in GYS2 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
- Genetic specialists (geneticists)
- 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 GYS2 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease due to glycogen synthase deficiency of liver; glycogen storage disease due to hepatic glycogen synthase deficiency; glycogen storage disease due to liver glycogen synthase deficiency; glycogen storage disease type 0, liver; glycogen storage disease type 0a; glycogen synthase deficiency
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disorder due to hepatic glycogen synthase deficiency · United States
- The Children's Fund for Glycogen Storage Disease ResearchGlycogen storage disorder due to hepatic glycogen synthase deficiency · United States
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