| A Case of Ornithine Transcarbamylase(OTC) Deficiency |
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Soonhak Kwon1, Yejhin Lee1, Byung-Ho Choe1, Sangkwon Lee2 |
1Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea
2Departments of Radiology, Kyungpook National University School of M edicine, Taegu, Korea |
| Ornithine Transcarbamylase(OTC) 결핍증 1례 |
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권순학1, 이예진1, 최병호1, 이상권2 |
1경북대학교 의과대학 소아과학교실
2경북대학교 의과대학 진단방사선과학교실 |
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| Abstract |
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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 effectively treated with hemodialysis, arginine, sodium benzoate, etc. This report
describes an experience in treating this condition with review of available literature. |
| Key Words:
OTC deficiency, Urea cycle defect, Reye syndrome |
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