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Orthotopic liver transplantation for urea cycle enzyme deficiency

Todo, S and Starzl, TE and Tzakis, A and Benkov, KJ and Kalousek, F and Saheki, T and Tanikawa, K and Fenton, WA (1992) Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology, 15 (3). 419 - 422. ISSN 0270-9139

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Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14‐day‐old boy with carbamyl phosphate synthetase‐I deficiency and in a 35‐yr‐old man with argininosuccinic acid synthetase deficiency. The first patient had high plasma glutamine levels and no measureable citrulline, whereas citrulline values were markedly increased in Patient 2. Enzyme analysis of the original livers showed undetectable activity of carbamyl phosphate synthetase‐I in Patient 1 and arginosuccinic acid synthetase in Patient 2. Both patients were comatose before surgery. Intellectual recovery of patient 1 has been slightly retarded because of a brain abscess caused by Aspergillus infection after surgery. Both patients are well at 34 and 40 mo, respectively, after surgery. Our experience has shown that orthotopic liver transplantation corrects the life‐threatening metabolic abnormalities caused by deficiencies in the urea cycle enzymes carbamyl phosphate synthetase‐I and arginosuccinic acid synthetase. Seven other patients–six with ornithine transcarbamylase deficiency and another with carbamyl phosphate synthetase‐I deficiency–are known to have been treated elsewhere with liver transplantation 1 1/2 yr or longer ago. Four of these seven recipients also are well, with follow‐ups of 1 1/2 to 5 yr. Thus liver transplantation corrects the metabolic abnormalities of three of the six urea cycle enzyme deficiencies, and presumably would correct all. (Hepatology 1992;15:419–422). Copyright © 1992 Wiley Subscription Services, Inc.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Todo, S
Starzl, TEtes11@pitt.eduTES11
Tzakis, A
Benkov, KJ
Kalousek, F
Saheki, T
Tanikawa, K
Fenton, WA
Centers: Other Centers, Institutes, Offices, or Units > Thomas E. Starzl Transplantation Institute
Date: 1 January 1992
Date Type: Publication
Journal or Publication Title: Hepatology
Volume: 15
Number: 3
Page Range: 419 - 422
DOI or Unique Handle: 10.1002/hep.1840150311
Institution: University of Pittsburgh
Refereed: Yes
ISSN: 0270-9139
Other ID: uls-drl:31735062111327, Starzl CV No. 1343
Date Deposited: 08 Apr 2010 17:22
Last Modified: 02 Feb 2019 13:55


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