McArdle disease, also known as glycogen storage disease type V, is an inherited metabolic disorder marked by a deficiency of myophosphorylase, the enzyme essential for the breakdown of glycogen in ...

Liver glycogen storage disease type IX (GSD IX) accounts for 25% for all GSD cases, with a prevalence of 1 out of 100,000 patients. GSD IX is caused by deficiency in phosphorylase kinase (PhK), which ...

Ultragenyx is gearing up to take its glycogen storage disease (GSD) treatment to regulators next year after the gene therapy helped patients reduce their intake of cornstarch, which is currently used ...

Introduction: Glycogen storage disease Type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme, encoded by the AGL gene. Two clinical types of the ...

In a global first, UConn Health, in collaboration with Connecticut Children's, has dosed a patient in a groundbreaking clinical trial testing gene editing technology to treat glycogen storage disease ...