Different Findings in Neonate Carbamyl-Phosphate Synthetase I Deficiency Disease

Abstract Background Carbamyl-Phosphate Synthetase I Deficiency Disease (CPS1) is a rare condition that is a disorder of the urea cycle. It often results in severe hyperammonaemia with poor prognosis due to inappropriate feeding. Case presentation: We report a case of a patient admitted with poor response and jaundice, with initial metabolic screening suggestive of hyperammonemia, refinement of blood and urine metabolic screening and second-generation sequencing clarifying CPS1, who was discharged from the hospital cured after a synergistic course of peritoneal dialysis, haemoexchange therapy, haemodialysis and oral ammonia-lowering medications. The patient was neurologically assessed for only mild brain damage and recovered. Conclusion Severe forms of CPS1 can also have excellent outcomes if early detection and treatment are achieved. Blood exchange therapy combined with peritoneal dialysis might be a less invasive treatment for patients in the acute phase. The clinical trial number: not applicable.