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 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.

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 ...

Glycogen storage disorders are inborn errors of metabolism that typically affect the cellular architecture and function of the liver or kidney. However, some of these diseases manifest in skeletal or ...

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 ...

COLUMBIA, Mo. - Glycogen storage disorders, which affect the body's ability to process sugar and store energy, are rare metabolic conditions that frequently manifest in the first years of life. Often ...

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Maze Therapeutics, a company translating genetic insights into new precision medicines, today announced new data from an exploratory muscle biopsy cohort ...

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Maze Therapeutics, a company translating genetic insights into new precision medicines, today announced that the company will present data from its ...

Introduction: Glycogen storage disease Type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme, encoded by the AGL gene. Two clinical types of the ...