Acid alpha-glucosidase, also called acid maltase, [5] is an enzyme that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell …

The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Lysosomes use digestive enzymes to break down complex molecules into simpler ones that can be used by cells.

Die lysosomale α-Glucosidase (auch saure Maltase, Gen: GAA) ist dasjenige Enzym, das in Lysosomen langkettige Polysaccharide zu Glucose abbaut. Es ist kein Teil des Glykogenabbaus in der Leber und auch kein Teil der Verdauung von Polysacchariden im Darm (wie die Maltase-Glucoamylase), sondern hilft beim Abbau von Fremdstoffen in den Lysosomen ...

2017年10月24日 · Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary...

2021年1月1日 · Acid alpha-glucosidase (GAA) is a lysosomal glycogen-catabolizing enzyme, the deficiency of which leads to Pompe disease. Pompe disease can be treated with systemic recombinant human GAA (rhGAA) enzyme replacement therapy (ERT), but the current standard of care exhibits poor uptake in skeletal muscles, limiting its clinical efficacy.

2024年12月25日 · GAA (Alpha Glucosidase) is a Protein Coding gene. Diseases associated with GAA include Pompe Disease and Glycogen Storage Disease. Among its related pathways are Innate Immune System and Diseases of carbohydrate metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity.

Acid α-glucosidase (GAA) Deficiency (GSDII), or Pompe Disease, is the only glycogen storage disease directly involving abnormal lysosomal metabolism. GAA (also known as acid maltase) is an α-amylase that is localized exclusively to the lysosome.

2016年9月14日 · The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Lysosomes use digestive enzymes to break down complex molecules into simpler ones that can be used by cells.

Pompe disease is caused by the accumulation of glycogen in the lysosomes due to a deficiency of the lysosomal acid-α-glucosidase (GAA) enzyme. Depending on residual enzyme activity, the disease manifests two distinct phenotypes. In this study, we assess an enzymatic and genetic analysis of Hungarian patients with Pompe disease.

Glycogenosis type II (GSDII, Pompe disease) is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (acid maltase, GAA). The enzyme degrades alpha -1,4 and alpha -1,6 linkages in glycogen, maltose, and isomaltose.