What is Phosphoglycerate Kinase Deficiency

Phosphoglycerate Kinase Deficiency

Phosphoglycerate kinase deficiency (PGK deficiency) is a rare genetic disorder that affects the body's ability to produce energy in the form of adenosine triphosphate (ATP) during exercise. It is an X-linked recessive disorder, meaning it primarily affects males.

Symptoms: Individuals with PGK deficiency may experience muscle weakness, fatigue, and exercise intolerance. These symptoms can vary in severity and may worsen with physical activity.

Cause: PGK deficiency is caused by mutations in the PGK1 gene, which provides instructions for making the phosphoglycerate kinase enzyme. This enzyme plays a crucial role in the glycolytic pathway, which is responsible for converting glucose into ATP.

Diagnosis: Diagnosis of PGK deficiency involves a combination of clinical evaluation, genetic testing, and enzyme activity assays. These tests help identify mutations in the PGK1 gene and measure the activity of phosphoglycerate kinase in red blood cells.

Treatment: Currently, there is no specific cure for PGK deficiency. Treatment mainly focuses on managing symptoms and optimizing energy levels. This may involve physical therapy, avoiding strenuous exercise, and maintaining a balanced diet.

Prognosis: The prognosis for individuals with PGK deficiency varies depending on the severity of symptoms. While some individuals may have mild symptoms and lead relatively normal lives, others may experience significant disability and require assistance with daily activities.