DISEASE SCANNER
Global Incurable Diseases Tracker
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Hepatologic Disease
Glycogen Storage Disease Type IV (Andersen Disease)
HIGH SEVERITY
A rare glycogen storage disease caused by glycogen branching enzyme deficiency. Accumulation of abnormal glycogen (polyglucosan) causes progressive liver failure, cirrhosis, and death in infancy or childhood. Also affects muscle and nervous system.
Global Affected
50.0K
Countries
18
Symptoms
Failure to thrive
Hepatosplenomegaly
Hypotonia
Cardiomyopathy
Cirrhosis
Portal hypertension
Ascites
Neuromuscular weakness
Treatment Options
Supportive care
Nutritional support
Management of liver failure
Liver transplantation
Physical therapy
Cardiac management
Genetic counseling
Risk Factors
1Autosomal recessive inheritance
2GBE1 gene mutations
3Family history
4Consanguinity
Diagnostic Methods
- 1Liver function tests
- 2Liver biopsy with electron microscopy
- 3Enzyme assay
- 4Genetic testing
- 5Muscle biopsy
- 6Echocardiogram
Prognosis
Poor; classic hepatic form fatal by age 5 without transplant. Liver transplant can be curative for liver disease. Neuromuscular forms vary.
Prevention
- Genetic counseling
- Prenatal diagnosis
- Newborn screening (pilot programs)
- Family screening
- Early diagnosis
Research Status
Supportive care and Nutritional support are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-iv
- https://www.nichd.nih.gov/health-topics/gsd4
- https://www.ncbi.nlm.nih.gov/books/NBK5300
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.