Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.
The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.
D000596:Amino Acids / Q000097:blood; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D006801:Humans; D007035:Hypothermia / Q000097:blood; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood*; D009123:Muscle Hypotonia / Q000097:blood; D010770:Phosphotransferases / Q000172:deficiency*; D012121:Respiration, Artificial
D000596:Amino Acids; D010770:Phosphotransferases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)