Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood, and high levels can damage the body organs and tissues, particularly the nervous system. It is rare, with an estimated incidence of about one in 250,000 births worldwide. Type A appears much more common in some Algonkian Indian tribes of eastern Canada, while type B is more present in European populations, and at least three types are distinguished by severity. The disorder causes lactic acidosis and high ammonia, which may lead to liver failure, an enlarged liver, reduced ketone body synthesis and loss of myelin around neurons. It is caused by mutations in the PC gene and inherited in an autosomal recessive pattern. Pyruvate carboxylase works in mitochondria, where it takes part in making glucose and in generating oxaloacetate to keep the citric acid cycle running, and it also contributes to myelin formation and neurotransmitter production. When the enzyme is reduced or disrupted, toxic compounds such as lactic acid and ammonia build up. The atlas records what is described in the literature and gives no medical advice.