What is PEPCK Deficiency

PEPCK deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is a rare genetic disorder that affects the body's ability to produce glucose. Glucose is a vital source of energy for the body's cells, especially the brain. This condition is caused by mutations in the PEPCK gene, which is responsible for producing an enzyme called phosphoenolpyruvate carboxykinase.

PEPCK deficiency can lead to various symptoms including hypoglycemia (low blood sugar), lactic acidosis (buildup of lactic acid in the body), and developmental delays. Infants with this condition may experience seizures, poor feeding, and failure to thrive. As they grow older, affected individuals may have intellectual disability, muscle weakness, and problems with coordination.

Diagnosis of PEPCK deficiency is typically done through genetic testing to identify mutations in the PEPCK gene. Treatment options for this condition are limited, and management mainly focuses on controlling symptoms. This may involve a combination of dietary interventions, such as frequent meals and snacks to maintain blood sugar levels, and medications to manage lactic acidosis.

While PEPCK deficiency is a challenging condition to live with, ongoing research and advancements in genetic therapies offer hope for potential future treatments.