Pyruvate carboxylase deficiency | 食品添加物合法業者資訊網

Pyruvatecarboxylasedeficiencyisaninheriteddisorderthatcauseslacticacidtoaccumulateintheblood....Highlevelsofthesesubstancescandamagethe ...

Inherited deficiency causing lactic acidosis

Medical condition

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood.[2] High levels of these substances can damage the bodys organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations.[3]

Pyruvate carboxylase deficiency causes lactic acidosis and hyperammonaemia.[4] Lactic acidosis may then lead to liver failure, hepatomegaly, reduced ketone body synthesis, and demyelination of neurons.[4]

Pyruvate carboxylase deficiency is caused by mutations in the PC gene. The PC gene provides instructions for ...