Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Carmen Diez-FernandezVéronique RüfenachtSaikat SantraAllan M LundRené SanterMartin LindnerTrine TangeraasCaroline UnsinnPascale de LonlayAlberto BurlinaClara D M van KarnebeekJohannes HäberlePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
CAVA deficiency is a differential diagnosis of early-onset and life-threatening metabolic crisis, with hyperammonemia, hyperlactatemia, and ketonuria as apparently obligate signs. It seems to be more common than other rare metabolic diseases, and early identification may allow specific treatment of hyperammonemia and ultimately prevent neurologic sequelae.Genet Med 18 10, 991-1000.