Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation

  • Aashika Janwadkar
  • Nikhil Shirole
  • Aabha NagralEmail author
  • Rochana Bakshi
  • Suresh Vasanth
  • Abhijit Bagde
  • Vijay Yewale
  • Darius Mirza
Clinical Brief


Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with Citrullinemia Type 1 at birth which was anticipated prenatally due to family history. His diagnosis was confirmed as a homozygous mutation (Exon 15: c.1168G > A (p.G390R)) of ASS gene. Inspite of being on a protein-free diet and ammonia scavenging treatment; the patient developed recurrent episodes of encephalopathy and seizures; complicated with behavioral issues. The patient underwent living related liver-transplantation from his mother (heterozygous carrier of the same mutation). Peri-transplant management of ammonia and plasma amino acid levels is challenging and has been highlighted. It is important to consider liver transplantation as it corrects the genetic deficiency of ASS resulting in the reversal of neuro-behavioral changes, as was seen in index patient.


Urea cycle defect Metabolic liver disease Living donor liver transplantation Hyperammonemia Arginosuccinate synthetase 


Authors' Contributions

AN and DM: Conceptualising and correcting the case report; AJ, SV, RB and NS: Writing up of the case report; AN, AB and VY: Reviewing and correcting the case report. AN will act as guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest



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Copyright information

© Dr. K C Chaudhuri Foundation 2019

Authors and Affiliations

  1. 1.Department of GastroenterologyApollo HospitalsNavi MumbaiIndia
  2. 2.Department of Gastroenterology and Hepatology and Liver TransplantationApollo HospitalsMumbaiIndia
  3. 3.Department of AnaesthesiaApollo HospitalsNavi MumbaiIndia
  4. 4.Department of Pediatrics and Pediatric Intensive CareApollo HospitalsNavi MumbaiIndia
  5. 5.Department of PediatricsApollo HospitalsNavi MumbaiIndia
  6. 6.Department of Hepato-pancreato-biliary Surgery and Liver TransplantationApollo HospitalsNavi MumbaiIndia

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