title: Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.
abstract: A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with congenital lactic acidosis. The enzymatic block could be isolated to the first component, pyruvate decarboxylase (E1) of the pyruvate dehydrogenase complex. This enzymatic deficiency allowed a demonstration of an "intercomplex" exchange of the components of the mammalian pyruvate dehydrogenase system and indicated that the first component is normally present in an apparent excess.
mesh_terms: D000138:Acidosis / Q000151:congenital* / Q000201:enzymology / Q000378:metabolism; D001921:Brain / Q000201:enzymology; D002262:Carboxy-Lyases / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000378:metabolism*; D008099:Liver / Q000201:enzymology; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates
chemical_list: D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D011773:Pyruvates; D002262:Carboxy-Lyases