Pyruvate-carboxylase deficiency with urea cycle impairment.
We report a case of pyruvate-carboxylase deficiency (EC 6.4.1.1, McKusick 26615) with neonatal onset of lactic acidosis, hyperammonemia, and citrullinemia. The patient developed signs of severe liver damage and died at 13 days of age after increasing metabolic acidosis and severe bleedings. The pyruvate-carboxylase activity in fibroblasts was less than 1% of controls, but normal activities of propionyl-CoA carboxylase (EC 6.4.1.3) and 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) were found. To prepare for early prenatal diagnosis of pyruvate-carboxylase deficiency, the activity of the enzyme has been measured in chorionic villus samples.
D000138:Acidosis / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood; D002824:Chorionic Villi / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood*; D015324:Pyruvate Carboxylase Deficiency Disease; D014508:Urea / Q000378:metabolism*
D000596:Amino Acids; D007773:Lactates; D014508:Urea