All issues > Volume 42(6); 1999

Case Report

J Korean Pediatr Soc. 1999;42(6):868-873. Published online June 15, 1999.

A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation

Bong Seong BS Kim¹, Kyung Mo KM Kim¹, Han-Wook HW Yoo¹, Sung Gyu SG Lee²

¹Departments of Pediatrics, Asan Medical Center, Ulsan University, College of Medicine, Seoul, Korea
²Departments of Surgery, Asan Medical Center, Ulsan University, College of Medicine, Seoul, Korea

Correspondence Han-Wook HW Yoo ,Email: hwyoo@www.amc.seoul.kr

Abstract

Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death during the newborn period. Our patient was at high risk for inborn error of urea cycle metabolism, since his two elder brothers died a few days after birth due to hyperammonemia. He was diagnosed as OTCD based on biochemical profiles and direct sequencing of the OTC gene. He has been managed with Ross metabolic protocol including protein restriction, administration of sodium benzoate, phenylacetate, arginine, citrulline, and diet therapy (Cyclinex-IⓇ) since birth. At the 8 months of age, we performed living-related liver transplantation(LRLT) using his father's left lateral segment. The patient’s serum ammonia level was restored to normal after LRLT without protein restriction. During postoperative follow up for 10 months, he was still in normal neurological and developmental status.

Keywords :Ornithine transcarbamylase deficiency, Liver transplantation, Diet