Siblings with carbamyl phosphate synthetase I deficiency.
This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to carbamyl phosphate synthetase I (CPS I) deficiency. The patient in Case 1 was admitted 2 days after birth because of oliguria and vomiting. Hyperammonemia developed and she died on the 43rd day. In Case 2 hyperammonemia developed from the 2nd day after birth and she expired on the 42nd day. In both cases the diagnosis of CPS I deficiency was established from autopsy findings of the liver.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D000641:Ammonia / Q000097:blood*; D001921:Brain / Q000473:pathology; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency*; D008099:Liver / Q000473:pathology; D010375:Pedigree
D000641:Ammonia; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)