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 ...

Discover how a 13-year-old boy with Glycogen Storage Disorder Type 1A manages his rare condition by drinking cornstarch water ...

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 ...

The rare and deadly genetic liver disorder, GSD type Ia, affects children from infancy through adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption 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 ...

This case presents an infant male child who initially presented with clinical features resembling glycogen storage disease type I (GSD I), including hepatomegaly, a doll-like face and metabolic ...

Shares of Ultragenyx Pharmaceutical RARE were up 15.5% yesterday following the completion of the rolling submission of a ...

Ultragenyx Pharmaceutical recently completed its rolling Biologics License Application to the FDA for DTX401 gene therapy for Glycogen Storage Disease Type Ia, while also reporting Phase 3 success for ...

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 that it has completed the rolling submission of its Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA), ...

At the Association for Glycogen Storage Disease's 41st Annual Conference, Dr. David Weinstein of UConn School of Medicine and Connecticut Children's presented his groundbreaking, one-year clinical ...