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 ...

Glycogen storage disorders are metabolic conditions that manifest in the first years of life. This inability to process and store glucose can be difficult to diagnose. Now, researchers who have ...

A potential treatment strategy for an often-fatal inherited glycogen storage disease has been identified by researchers. Patients with the disorder lack the enzyme that enables their livers to convert ...

Glycogen storage disease (GSD) refers to a group of rare genetic conditions that affect how the body stores and breaks down glycogen. The most common type is type I, also called von Gierke disease.

Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase γ ...

Dr. David Weinstein of the University of Connecticut School of Medicine and Connecticut Children's has presented the results from a one-year clinical trial testing a new gene therapy as a treatment ...

In medical slang, my son is a zebra. Most of us will someday have conditions that are common — cancer, diabetes, heart disease — diseases with familiar symptoms as recognizable as a horse. But my ...

Researchers from the Duke-NUS Graduate Medical School Singapore (Duke-NUS) and Duke Medicine have identified a potential treatment strategy for an often-fatal inherited glycogen storage disease.