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Orthotopic liver transplantation for urea cycle enzyme deficiency
Author(s) -
Todo Satoru,
Starzl Thomas E.,
Tzakis Andreas,
Benkov Keith J.,
Kalousek Frantisek,
Saheki Takeyori,
Tanikawa Kyuichi,
Fenton Wayne A.
Publication year - 1992
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.1840150311
Subject(s) - carbamyl phosphate , urea cycle , hyperammonemia , citrulline , ornithine transcarbamylase deficiency , liver transplantation , medicine , carbamoyl phosphate synthetase , transplantation , orotic acid , biliary atresia , glutamine , endocrinology , ornithine transcarbamylase , gastroenterology , biochemistry , enzyme , biology , arginine , amino acid
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).