Catalog

Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency – http://id.who.int/icd/entity/564605304

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency.