River Pugh, a three-year-old boy from Indiana, is fighting to survive Pompe Disease, a rare genetic disease that causes ...

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 ...

Glycogen storage disorders are inborn errors of metabolism that typically affect the cellular architecture and function of the liver or kidney. However, some of these diseases manifest in skeletal or ...

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 ...

Scientists at the University of Kentucky and colleagues used imaging techniques for studying brain metabolism to identify the reservoir for a necessary sugar in the brain. The team discovered that ...

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 ...