Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report

Medicine (Baltimore). 2017 Jun;96(26):e7365. doi: 10.1097/MD.0000000000007365.


Rationale: The carbamoyl phosphate synthetase I deficiency (CPS1D) was rare and hard to diagnose due to its atypical symptoms. Brain magnetic resonance imaging (MRI) was typically unavailable in other reports because most patients died before diagnosis was confirmed. Furthermore, it was found a new mutation that had not been described previously.

Patient concerns: This is a case of neonatal-onset CPS1D with nonspecific clinical manifestations and deteriorating rapidly. Poor feeding, low activity, and tachypnoea were observed, with rapid progression on day 2 after birth. Severe systematic infection was considered first. However, blood culture and cerebrospinal fluid examination were negative. Symptoms were relief temporarily. Then seizure and tachypnoea reappeared as intravenous amino acids were provided. Further examination indicated severe hyperammonemia (serum ammonia level >500mmol/L). Brain MRI showed diffused white matter lesions.

Diagnoses: Genetic analysis revealed 2 heterozygous mutations in the CPS1 gene: c.2407C>G (p.803, R>G) in exon 20 and C.323G>A (p.108, G>E) in exon 4. The diagnosis of CSP1D was confirmed.

Interventions: Fasting, the withdrawal of amino acids and plans to treat hyperammonemia were immediately implemented.

Outcomes: The parents decided to discontinue medical care.

Lessons: Many CPS1D patients died before the diagnoses are confirmed due to its sudden onset, rapid deterioration, atypical symptoms, and low morbidity. Once hyperammonemia is confirmed, blood and urea amino acid analysis in combination with genetic examinations should be performed as early as possible, this approach would help establish diagnoses at an early stage and thus contribute to reducing mortality and improving prognosis.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Carbamoyl-Phosphate Synthase (Ammonia) / genetics
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / therapy
  • Early Diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Treatment Refusal


  • Carbamoyl-Phosphate Synthase (Ammonia)