Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxykinase deficiency, or PEP carboxykinase deficiency, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of gluconeogenesis caused by a deficient PEPCK1 enzyme. PEPCK1 catalyzes the conversion of amino acids into sugars, mainly glucose, which is important in preventing hypoglycemia. This disorder is characterized by a large accumulation of lactic acid in the blood. Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective. It is estimated that Phosphoenolpyruvate Carboxykinase Deficiency 1 has only affected 10 individuals around the world according to medical literature.

Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1) References

Gluconeogenesis References