Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.
D000140:Acidosis, Lactic / Q000097:blood*; D000641:Ammonia / Q000097:blood*; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D012333:RNA, Messenger / Q000378:metabolism
D012333:RNA, Messenger; D000641:Ammonia