Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy

Toshimichi Hasegawa, Andreas G. Tzakis, Satoru Todo, Jorge Reyes, Bakr Nour, David N. Finegold, Thomas E. Starzl

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Ornithine transcarbamylase (OTC) deficiency is an X chromosome-linked disorder causing hyperammonemic encephalopathy with a very poor prognosis. We describe here two patients with OTC deficiency, one a late-onset female patient (case 1) and the other a neonatal-onset male patient (case 2), who were successfully treated with orthotopic liver transplantation (OLTx). The OTC activity in the excised liver was 10% and 0% of control respectively. Hyperammonemic encephalopathy was controlled with medical therapy in case 1 until the age 5 years, but the complicated course in case 2 in which hyperammonemia required peritoneal dialysis and hemodialysis in the neonatal period necessitated OLTx with a reduced-size liver at the age of 80 days. Both patients had restoration of serum ammonia level to normal in 2 and 3 days after liver replacement, and both patients have normal neurological and developmental status after 2 and 0.5 years of postoperative follow-up. These cases illustrate not only the metabolic cure of this disorder, but also the need to preserve neurological integrity by aggressive medical management of the hyperammonemia preoperatively and early surgical intervention when indicated, even if this is required very early in life.

Original languageEnglish
Pages (from-to)863-865
Number of pages3
JournalJournal of Pediatric Surgery
Volume30
Issue number6
Publication statusPublished - Jun 1995
Externally publishedYes

Fingerprint

Ornithine Carbamoyltransferase Deficiency Disease
Brain Diseases
Liver Transplantation
Hyperammonemia
Liver
Chromosome Disorders
Ornithine Carbamoyltransferase
X Chromosome
Peritoneal Dialysis
Ammonia
Renal Dialysis
Serum

Keywords

  • hyperammonemic encephalopathy
  • ornithine transcarbamylase deficiency
  • Orthotopic liver transplantation
  • reduced-size liver transplantation
  • urea cycle enzyme deficiency

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

Cite this

Hasegawa, T., Tzakis, A. G., Todo, S., Reyes, J., Nour, B., Finegold, D. N., & Starzl, T. E. (1995). Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. Journal of Pediatric Surgery, 30(6), 863-865.

Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. / Hasegawa, Toshimichi; Tzakis, Andreas G.; Todo, Satoru; Reyes, Jorge; Nour, Bakr; Finegold, David N.; Starzl, Thomas E.

In: Journal of Pediatric Surgery, Vol. 30, No. 6, 06.1995, p. 863-865.

Research output: Contribution to journalArticle

Hasegawa, T, Tzakis, AG, Todo, S, Reyes, J, Nour, B, Finegold, DN & Starzl, TE 1995, 'Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy', Journal of Pediatric Surgery, vol. 30, no. 6, pp. 863-865.
Hasegawa, Toshimichi ; Tzakis, Andreas G. ; Todo, Satoru ; Reyes, Jorge ; Nour, Bakr ; Finegold, David N. ; Starzl, Thomas E. / Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. In: Journal of Pediatric Surgery. 1995 ; Vol. 30, No. 6. pp. 863-865.
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