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 ...

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 ...

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 ...

New review highlights evolving Pompe disease management, from screening to next-generation therapies and monitoring. Read ...

Pompe disease is a rare genetic disorder that disables the heart and skeletal muscles. The inherited disorder can develop at any age, although the often-fatal disorder has faster progression and ...

Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced the U.S. Food and Drug Administration (FDA or the Agency) has ...

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 ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

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 ...

PHILADELPHIA (May 16, 2025) – A new study published in Science Advances reveals that a single gene plays a big role in how the liver stores energy, a process that's critical for overall health and for ...

Glucose is our body’s favorite fuel source. Your body stores extra glucose as glycogen to use when you need more energy. All parts of our body need energy to function. We get energy from carbohydrates ...