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 disease type III (GSD III) is a rare genetic disorder resulting from mutations in the AGL gene, which encodes the glycogen debranching enzyme (GDE). This enzyme is vital for the ...

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 ...

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 ...

NOVATO, Calif., Aug. 18, 2025 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (RARE) today announced the initiation of a rolling submission of a Biologics License Application (BLA) to the U.S. Food ...