Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2003 Oct;8(8):497-8.
doi: 10.1093/pch/8.8.497.

Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis

S Sirrs  1 , E M Yoshida, Ltk Wong, S R Erb, S W Chung, U P Steinbrecher, C H Scudamore, C Hartnett, Y Lillquist, Agf Davidson
Affiliations
Case Reports

Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis

S Sirrs et al. Paediatr Child Health. 2003 Oct.

Abstract
in English, French

A 15-year-old female with carbamyl phosphate synthetase deficiency, cystic fibrosis, and cystic fibrosis-related diabetes underwent orthotopic cadaveric liver transplantation. Metabolic control was maintained during the procedure with nutritional support and the use of intravenous sodium phenylacetate and benzoate. Her postoperative course was complicated by seizures and a transient decline in her pulmonary function tests, which returned to preoperative levels within one year of the transplant. Now, four years post-transplant, her quality of life has dramatically improved. There are only four Canadian centres with paediatric liver transplantation programs. However, expert medical care for adults with inborn error of metabolism is even more limited, suggesting that access to adult medical care is one of the many factors to be considered when liver transplantation is contemplated for patients with metabolically unstable conditions.

Une adolescente de 15 ans atteinte de carence de la synthétase du carbamylphosphate, de fibrose kystique et de diabète secondaire à la fibrose kystique a subi une transplantation orthotopique d’un foie de cadavre. Le contrôle métabolique a été maintenu pendant l’intervention grâce à un soutien nutritionnel et à l’utilisation intraveineuse de phénylacétate de sodium et de benzoate de sodium. Son cheminement postopératoire a été compliqué par des convulsions et par un dépérissement transitoire aux explorations fonctionnelles respiratoires, lesquelles sont revenues aux taux préopératoires dans l’année suivant la transplantation. Et maintenant, quatre ans après la transplantation, sa qualité de vie a considérablement augmenté. Seulement quatre centres canadiens sont dotés d’un programme pédiatrique de transplantation hépatique. Cependant, les soins médicaux spécialisés destinés aux adultes présentant une maladie enzymatique sont encore plus limités, ce qui laisse supposer que l’accès à des soins médicaux pour adultes constitue l’un des nombreux facteurs dont il faut tenir compte lorsqu’une transplantation hépatique est envisagée pour des patients souffrant d’une maladie instable d’un point de vue métabolique.

Keywords: Carbamyl phosphate synthetase deficiency; Cystic fibrosis; Liver; Transplantation.

PubMed Disclaimer

Similar articles

See all similar articles

References

    1. Wong LTK, Hofmann T, Lillquist Y, et al. The effect of long-term phenylbutyrate therapy in a unique patient with delta-F508 homozygous cystic fibrosis and carbamyl phosphate synthetase deficiency Pediatr Pulmonol 199817Suppl276(Abst 267)
    1. Todo S, Starzl TE, Tzakis A, et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology. 1992;15:419–22. - PMC - PubMed
    1. Saudubray JM, Touati G, Delonlay P, et al. Liver transplantation in urea cycle disorders. Eur J Pediatr. 1999;158(Suppl 2):S55–9. - PubMed
    1. Jan D, Poggi F, Jouvet P, et al. Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: Report of 3 cases. Transplant Proc. 1994;26:188. - PubMed
    1. Nagata N, Matsuda I, Oyanagi K. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet. 1991;39:228–9. - PubMed

Publication types