Pyruvate Carboxylase Deficiency is a rare genetic disorder that affects the body's ability to convert pyruvate, a product of glucose metabolism, into oxaloacetate, a key molecule in energy production. This deficiency is also known by several other names, including:
Pyruvate Carboxylase Deficiency is an autosomal recessive disorder, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The deficiency can manifest in various ways, including developmental delays, intellectual disability, seizures, hypotonia, and metabolic acidosis. Early diagnosis and management are crucial to optimize the affected individual's quality of life.