Genetic Test
The PFKM (Phosphofructokinase, Muscle Type) gene encodes a key enzyme involved in the breakdown of glycogen into glucose through the glycolytic pathway.
This enzyme is essential for efficient energy production and is predominantly expressed in muscle tissue, but is also found in the liver and platelets.
Mutations in the PFKM gene impair normal glucose metabolism, leading to Glycogen Storage Disease Type VII (GSD VII), a condition that primarily affects muscle function due to reduced energy availability during exertion.
This genetic test targets a specific mutation in the PFKM gene associated with Glycogen Storage Disease Type VII.
Disease Description
Glycogen Storage Disease Type VII (GSD VII) is a serious metabolic disorder characterized by excessive accumulation of glycogen, particularly in the liver and muscles.
Glycogen is a major storage polysaccharide found throughout the body, especially in liver and skeletal muscle tissues. It serves as an essential energy reserve and helps maintain stable blood glucose levels, particularly in response to physical activity and fasting.
In GSD VII, a deficiency in the enzyme phosphofructokinase impairs the normal breakdown of glycogen, leading to its abnormal buildup.
This disruption in glucose metabolism can result in a variety of complications, including poor blood sugar regulation, exercise intolerance, muscle weakness, and other systemic metabolic disturbances.
