CPT® Code 84087

Phosphohexose isomerase, also known as glucose-6-phosphate isomerase, is a crucial enzyme involved in the metabolic pathway of glycolysis. This enzyme facilitates the isomerization process, converting glucose-6-phosphate into fructose-6-phosphate, which is a key step in the energy production pathway of cells. The enzyme is encoded by the GPI gene, and its proper function is essential for maintaining normal metabolic processes. Deficiencies or defects in the GPI gene can lead to significant health issues, including nonspherocytic hemolytic anemia, a condition characterized by the destruction of red blood cells, and in severe cases, can result in hydrops fetalis, a serious condition in fetuses marked by an abnormal accumulation of fluid. Understanding the role of phosphohexose isomerase is vital for diagnosing and managing related metabolic disorders.