All issues > Volume 43(1); 2000

Case Report

J Korean Pediatr Soc. 2000;43(1):123-127. Published online January 15, 2000.

A Case of Ornithine Transcarbamylase(OTC) Deficiency

Soonhak SH Kwon¹, Yejhin YJ Lee¹, Byung-Ho BH Choe¹, Sangkwon SK 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

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.

Keywords :OTC deficiency, Urea cycle defect, Reye syndrome