Glycogen storage disease due to liver glycogen phosphorylase deficiency
ORPHA:369· ICD-10 E74.0
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood