A Case of Ornithine Transcarbamylase (OTC) Deficiency.
- Author:
Soonhak KWON
1
;
Yejhin LEE
;
Byung Ho CHOE
;
Sangkwon LEE
Author Information
1. Department of Pediatrics, Kyungpook National University School of Medicine, Taegu, Korea.
- Publication Type:Case Report
- Keywords:
OTC deficiency;
Urea cycle defect;
Reye syndrome
- MeSH:
Arginine;
Carbamyl Phosphate;
Citrulline;
Hepatic Encephalopathy;
Hyperammonemia;
Ornithine Carbamoyltransferase Deficiency Disease;
Ornithine Carbamoyltransferase*;
Ornithine*;
Renal Dialysis;
Reye Syndrome;
Sodium Benzoate;
Urea
- From:Journal of the Korean Pediatric Society
2000;43(1):123-127
- CountryRepublic of Korea
- Language:Korean
-
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.
