Glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders characterised by defects in enzymes responsible for the synthesis or breakdown of glycogen, leading to variable ...

Glycogen storage disease type III (GSD III; McKusick, 232,400) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (amylo-1,6-glucosidase, AGL). AGL contains two ...

McArdle's disease, also known as Glycogen Storage Disease Type V, or GSD5, is a congenital disorder of muscle metabolism. It occurs when the body loses its ability to break down glycogen leading to ...

The treatment which took place at UConn’s John Dempsey Hospital used gene therapy, a technique in which the patients genetic data is altered to fix an issue inside the genes in their cells. This ...

Ultragenyx Pharmaceutical Inc. anticipates a meeting later this year with the U.S. FDA to discuss a BLA filing for gene therapy DTX-401 as the first potential medical treatment for glycogen storage ...

Using novel imaging methods for studying brain metabolism, researchers have identified the reservoir for a necessary sugar in the brain. Glycogen serves as a storage depot for the sugar glucose. Using ...

This image shows human liver cells treated with a drug that induces glycogen ubiquitination. The bright white speckles appear where glycogen and ubiquitin overlap, indicating that glycogen has been ...

When we eat foods containing sugar, our bodies convert the excess into glycogen, which is mainly stored in the liver and muscles. Scientists have studied glycogen metabolism for centuries. This ...

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 ...