DISEASE SCANNER
Global Incurable Diseases Tracker
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Metabolic Disorder
Glycogen Storage Disease Type I (von Gierke)
HIGH SEVERITY
The most common glycogen storage disease, caused by glucose-6-phosphatase deficiency (Type Ia) or translocase deficiency (Type Ib). Characterized by severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperuricemia, and hyperlipidemia.
Global Affected
80.0K
Countries
16
Symptoms
Severe hypoglycemia
Hepatomegaly
Lactic acidosis
Hyperuricemia
Hyperlipidemia
Growth retardation
Nephromegaly
Delayed puberty
Treatment Options
Continuous glucose supply (uncooked cornstarch)
Frequent feedings
Allopurinol (for hyperuricemia)
Lipid-lowering agents
ACE inhibitors (renal protection)
Liver transplantation
Granulocyte colony-stimulating factor (Type Ib)
Risk Factors
1Autosomal recessive inheritance
2G6PC gene (Type Ia)
3SLC37A4 gene (Type Ib)
4Ashkenazi Jewish ancestry
5Consanguinity
Diagnostic Methods
- 1Fasting glucose and lactate
- 2Genetic testing
- 3Liver biopsy
- 4Glucose-6-phosphatase assay
- 5Molecular analysis
Prognosis
Improved with modern management; long-term complications include hepatic adenomas, renal disease, gout. Normal intelligence. Liver transplant curative.
Prevention
- Genetic counseling
- Prenatal diagnosis
- Newborn screening (pilot programs)
- Dietary management
- Regular monitoring
Research Status
Continuous glucose supply (uncooked cornstarch) and Frequent feedings are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i
- https://www.nichd.nih.gov/health/topics/gsd1
- https://www.ncbi.nlm.nih.gov/books/NBK1312
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.