- Case Report
- A Case of Ornithine Transcarbamylase(OTC) Deficiency
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Soonhak Kwon, Yejhin Lee, Byung-Ho Choe, Sangkwon Lee
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Clin Exp Pediatr. 2000;43(1):123-127. Published online January 15, 2000
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OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of this enzyme may lead to Reye syndrome like picture such as encephalopathy, hepatic dysfunction, hyperammonemia, etc. We recently had a case that was presented as recurrent Reye syndrome, and was... |
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