Pyruvate carboxylase deficiency.
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.
D002262:Carboxy-Lyases / Q000172:deficiency; D002956:Citrulline / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood*; D019344:Lactic Acid; D008297:Male; D008661:Metabolism, Inborn Errors / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D015324:Pyruvate Carboxylase Deficiency Disease
D007773:Lactates; D002956:Citrulline; D019344:Lactic Acid; D002262:Carboxy-Lyases