Genetic Test
The G6PC (Glucose-6-phosphatase) gene encodes a protein that is integrated into the membrane of the endoplasmic reticulum (ER), an intracellular organelle.
This protein is responsible for catalyzing the final step in gluconeogenesis and glycogenolysis by converting glucose-6-phosphate into free glucose, which is then transported out of the ER and into the bloodstream.
It plays a critical role in maintaining glucose homeostasis within cells and the body.
Deficiencies in this enzyme lead to impaired glucose release, resulting in Glycogen Storage Disease Type Ia (GSD Ia)—a metabolic disorder characterized by the accumulation of glycogen in liver and kidney tissues due to the inability to properly regulate blood glucose levels.
This genetic test targets a specific G6PC mutation associated with Glycogen Storage Disease Type Ia.
Disease Description
Glycogen Storage Disease Type I (GSD I) is a severe metabolic disorder characterized by the excessive accumulation of glycogen, particularly in the liver.
Glycogen is a major storage polysaccharide found throughout the body, especially in the liver and muscles, where it serves as a critical energy reserve.
Under normal conditions, glycogen levels fluctuate based on blood glucose levels and physical activity, helping to maintain glucose homeostasis.
In GSD I, impaired glycogen breakdown leads to abnormal storage within tissues, especially the liver, disrupting normal glucose regulation and resulting in a range of metabolic complications.
