ALDOA
Description
The ALDOA gene provides instructions for making the aldolase A enzyme, a crucial component in glycolysis, the process that breaks down glucose to generate energy. Aldolase A acts as a catalyst, splitting fructose-1,6-bisphosphate into two smaller sugars, glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. These molecules then proceed through the rest of glycolysis, producing ATP, the primary energy currency of cells. The ALDOA gene is essential for normal cellular function, particularly in tissues with high energy demands like muscles and red blood cells.
Associated Diseases
- Hereditary fructose intolerance (HFI): A genetic disorder caused by deficiency of aldolase B, another enzyme in fructose metabolism. Accumulation of fructose-1-phosphate in the liver leads to severe complications.
- Glycogen storage disease type XIII (GSD XIII): A rare disorder characterized by muscle weakness and cramps due to defects in the ALDOA gene, affecting glycogen breakdown in muscles.
Did you know?
Mutations in the ALDOA gene can lead to a buildup of fructose-1,6-bisphosphate, which can interfere with other metabolic pathways.
