Glycogen storage disease due to liver phosphorylase kinase deficiency
ORPHA:264580· ICD-10 E74.0
Definition
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Childhood