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 ...

Glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders that impair normal glycogen synthesis or degradation, resulting in the accumulation of structurally abnormal ...

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 ...

At Week 96 participants experienced even greater reductions in daily cornstarch intake while maintaining low levels of hypoglycemia, improved levels of euglycemia and improved fasting tolerance Phase ...

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 ...

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 ...