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Carbonic anhydrase 5A, mitochondrial (CA5A) is a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate within mitochondria. It plays a crucial role in providing bicarbonate for carbamoyl phosphate synthetase I (urea cycle) and pyruvate carboxylase (gluconeogenesis), among other enzymes. CA5A is primarily expressed in the liver, and its deficiency leads to hyperammonaemia due to impaired ammonia detoxification. Treatment includes carglumic acid administration to support the urea cycle.
Carglumic acid enhances the activity of carbamoyl phosphate synthetase I, bypassing the need for CA5A-produced bicarbonate in the urea cycle and thus reducing hyperammonaemia.
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