Genetic Test
The AGL (Amylo-Alpha-1,6-Glucosidase, 4-Alpha-Glucanotransferase) gene encodes a multifunctional enzyme involved in the breakdown of glycogen into glucose.
This enzyme plays a key role in glycogenolysis by helping to remove branch points in glycogen molecules, allowing for their complete degradation into usable glucose.
Deficiency or malfunction of this enzyme leads to Glycogen Storage Disease Type IIIA (GSD IIIA), a metabolic disorder characterized by abnormal glycogen accumulation, particularly in the liver and muscles.
This genetic test targets a specific AGL gene mutation associated with Glycogen Storage Disease Type IIIA.
Disease Description
Glycogen Storage Disease Type IIIA (GSD IIIA), also known as Cori disease, is a serious metabolic disorder characterized by excessive accumulation of glycogen, especially in the liver and skeletal muscles.
Glycogen is a major energy storage polysaccharide widely distributed throughout the body, particularly in the liver and muscle tissues. It helps maintain stable blood glucose levels by being mobilized during fasting or increased energy demands.
In GSD IIIA, a deficiency in the debranching enzyme impairs the proper breakdown of glycogen, leading to its abnormal buildup.
This disrupts normal glucose regulation and can result in a range of metabolic abnormalities, including low blood sugar, enlarged liver (hepatomegaly), and progressive muscle weakness.
