Definition
Glycogen storage disease type IV is a rare metabolic disease characterized by branching enzyme deficiency, progressive liver cirrhosis, and neuromuscular involvement.
Symptoms
- Hepatomegaly
- Progressive cirrhosis
- Hypotonia
- Developmental delay
Reasons
GBE1 gene mutation.
Diagnosis
Liver biopsy, genetic testing.
Treatment
Liver transplantation.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of liver failure, emergency services should be consulted.
This page is for general information purposes only.