Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in
glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL) …

Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the
conditions collectively termed glycogen storage diseases (GSDs). These disorders are rare …

Purpose In glycogen storage disease type III (GSD III), liver aminotransferases tend to
normalize with age giving an impression that hepatic manifestations improve with age …

Abstract Background Tunisia is a North African country of 10 million inhabitants. The native
background population is Berber. However, throughout its history, Tunisia has been the site …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural
muscular defects are most common; however functional impairment of skeletal and cardiac …

Inborn errors of metabolism (IEM) encompass a group of monogenic diseases affecting both
pediatric and adult populations and currently lack effective treatments. Some IEM such as …

Mutations in genes that play fundamental roles in metabolic pathways have been found to
also play a role in tumor development and susceptibility to cancer. At the same time …

Introduction Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate
metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is …

Glycogen storage disease subtypes I and III (GSD I and GSD III) are monogenic inherited
disorders of metabolism that disrupt glycogen metabolism. Unavailability of glucose in GSD I …