A Case of Ornithine Transcarbamylase(OTC) Deficiency
Year: 2000
Type: article
Study design: Case Report
Abstract: OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC cata- lyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial defi- ciencies 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 re- port describes an experience in treating this condition with review of available literature. (J Korean Pediatr Soc 2000;43:123-127)
Source: Korean Journal of Pediatrics
Institution: Kyungpook National University
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W995995427