Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels rose to 570 mumol/u (795 microgram/100 ml) a few hours before death, which occurred on the third and fourth day of life respectively. Assay of liver urea cycle enzymes in baby B showed a complete absence of mitochondrial carbamyl phosphate synthetase activity.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D005973:Glutamine / Q000097:blood / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D008930:Mitochondria, Liver / Q000201:enzymology*; D010770:Phosphotransferases / Q000172:deficiency*
D005973:Glutamine; D000641:Ammonia; D010770:Phosphotransferases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)