Jan 3, 2013 · Glycogen storage disease type IV (GSD IV) should be suspected in individuals with the features below. While subtypes with variable ages of onset, severity, and clinical features have been recognized, the GSD IV phenotype represents a continuum that ranges from mild to severe [Burrow et al 2006].

Apr 3, 2012 · Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.

Glycogen storage disease type IV (GSD IV), or Andersen's Disease, [2][3] is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme.

Jan 21, 2025 · Mutations in GBE1 lead to the production of abnormally structured glycogen, known as polyglucosan bodies, which is the hallmark of GSD type IV. These polyglucosan bodies accumulate in liver and muscle cells and do not effectively undergo glycogenolysis.

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

What is glycogen storage disease? Glycogen storage diseases (GSDs) are a group of rare conditions in which your body can’t use or store glycogen properly. They’re types of inherited (passed from parent to child) metabolic disorders.

Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen k …

GSD IV is an ultra-rare autosomal recessive disease caused by biallelic pathogenic variants in the glycogen branching enzyme 1 (GBE1) gene which results in reduced or deficient GBE activity.

Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children (inherited). For most GSDs, each parent must pass on one abnormal copy of the same gene.

There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms. The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body.