Living with Glycogen storage disease type 1 due to SLC37A4 mutation
A type of glycogen storage disease type I caused by changes in the SLC37A4 gene.
Understanding Glycogen storage disease type 1 due to SLC37A4 mutation
GARD has little else about this condition yet. It describes it as a glycogen storage disease due to glucose-6-phosphatase deficiency.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
- 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 SLC37A4 gene cause this condition.
Also known as: g6p translocase deficiency; glucose-6-phosphate translocase deficiency; glycogen storage disease i caused by mutation in slc37a4; slc37a4 glycogen storage disease i
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease type 1 due to SLC37A4 mutation · United States
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Perspectives from people navigating life with Glycogen storage disease type 1 due to SLC37A4 mutation.
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