Glycogen storage disease due to liver glycogen phosphorylase deficiency
What is Glycogen storage disease due to liver glycogen phosphorylase deficiency?
A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood.
Other condition names
- GSD due to liver glycogen phosphorylase deficiency
- GSD type 6
- GSD type VI
- Glycogen storage disease type 6
- Glycogen storage disease type VI
- Glycogenosis due to liver glycogen phosphorylase deficiency
- Glycogenosis type 6
- Glycogenosis type VI
- Hepatic glycogen phosphorylase deficiency
- Hepatic phosphorylase deficiency
- Hers disease
- Liver glycogen phosphorylase deficiency
Inheritance type
Autosomal recessive
Age of Onset
- Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.