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 ...

Scientists from the Centenary Institute and the University of Sydney have made a landmark discovery that could lead to safer and more effective gene therapies for a range of serious genetic disorders ...

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 ...

An international research team has uncovered new insights into healthy brain aging. The researchers found that aging leads 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 ...

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 ...