J Korean Pediatr Soc.
2000 Jan;43(1):123-127.
A Case of Ornithine Transcarbamylase (OTC) Deficiency
- Affiliations
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- 1Department of Pediatrics, Kyungpook National University School of Medicine, Taegu, Korea.
- 2Department of Radiology, Kyungpook National University School of Medicine, Taegu, Korea.
Abstract
- 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.
Keyword
MeSH Terms
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Arginine
Carbamyl Phosphate
Citrulline
Hepatic Encephalopathy
Hyperammonemia
Ornithine Carbamoyltransferase Deficiency Disease
Ornithine Carbamoyltransferase*
Ornithine*
Renal Dialysis
Reye Syndrome
Sodium Benzoate
Urea
Arginine
Carbamyl Phosphate
Citrulline
Ornithine
Ornithine Carbamoyltransferase
Sodium Benzoate
Urea
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