[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].
This is a report of a male neonate with hyperammonemia who showed progressive neurologic symptoms and pulmonary bleeding due to carbamyl phosphate synthetase deficiency. This newborn male died in coma after only 119 hours. His elder brothers died under similar circumstances in the first days of life, and a CPS-deficiency is not to be excluded. The pulmonary bleeding in the patient and in one brother caused by hyperammonemia is emphasized. In the pedigree repeated consanguinity could be detected.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000473:pathology; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D003404:Creatinine / Q000097:blood; D006470:Hemorrhage / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007238:Infarction / Q000473:pathology; D008025:Ligases / Q000172:deficiency*; D008168:Lung / Q000098:blood supply; D008171:Lung Diseases / Q000473:pathology; D008297:Male; D014527:Uric Acid / Q000097:blood
D000596:Amino Acids; D014527:Uric Acid; D000641:Ammonia; D003404:Creatinine; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)
Carbamylphosphatsynthetasemangel bei einem Neugeborenen mit letalem Verlauf.