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

Journal of the Korean Pediatric Society 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 Kim1, Kyung Mo Kim1, Han-Wook Yoo1, Sung Gyu 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
Ornithine Transcarbamylase(OTC) 결손증 환아에서 단백식이 제한과 생체부분간이식을 통한 성공적 치료 1례
김봉성1, 김경모1, 유한욱1, 이승규2
1울산대학교 의과대학 서울중앙병원 소아과
2울산대학교 의과대학 서울중앙병원 외과
Correspondence: 
Han-Wook 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.
Key Words: Ornithine transcarbamylase deficiency, Liver transplantation, Diet


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