Pyruvate carboxylase has a role in gluconeogenesis, lipogenesis and the TCA cycle, catalyzing the conversion of pyruvate to oxaloacetate, an anaplerotic reaction that replenishes TCA cycle intermediates. It is a key enzyme, maintaining the balance of metabolic pathways, particularly in tissues with high metabolic demands. Deficiencies in pyruvate carboxylase activity can lead to severe metabolic disturbances. Pyruvate carboxylase deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by a spectrum of symptoms based on the severity of the enzyme deficiency, categorized into 3 types, A, infantile, B, severe neonatal, and C, intermittent/benign. AkrivisBio’s Pyruvate Carboxylase Activity Assay is a simple, sensitive means of quantitating pyruvate carboxylase activity in a variety of biological samples with a sensitivity below 100 µU.
