Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature review

World J Gastroenterol. 2015 Apr 7;21(13):4063-8. doi: 10.3748/wjg.v21.i13.4063.


The urea cycle is the final pathway for nitrogen metabolism. Urea cycle disorders (UCDs) include a variety of genetic defects, which lead to inefficient urea synthesis. Elevated blood ammonium level is usually dominant in the clinical pattern and the primary manifestations affect the central nervous system. Herein, we report the case of a 17-year-old girl who was diagnosed with UCD at the age of 3. Despite a controlled diet, she was hospitalized several times for acute attacks with recurrent life risk. She came to our attention for a hyperammonemic episode. We proposed an orthotopic liver transplant (OLT) as a treatment; the patient and her family were in complete agreement. On February 28, 2007, she successfully received a transplant. Following the surgery, she has remained well, and she is currently leading a normal life. Usually for UCDs diet plays the primary therapeutic role, while OLT is often considered as a last resort. Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment.

Keywords: Diet; Hyperammonemia; Liver transplantation; Quality of life; Urea cycle disorders.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / complications
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diet therapy
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / surgery*
  • Diet, Protein-Restricted
  • Disease Progression
  • Female
  • Humans
  • Hyperammonemia / etiology
  • Liver Transplantation*
  • Quality of Life
  • Treatment Outcome