A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation.
- Author:
Bong Seong KIM
1
;
Kyung Mo KIM
;
Han Wook YOO
;
Sung Gyu LEE
Author Information
1. Department of Pediatrics, Asan Medical Center, Ulsan University, College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Ornithine transcarbamylase deficiency;
Liver transplantation;
Diet
- MeSH:
Ammonia;
Arginine;
Citrulline;
Coma;
Diet;
Diet Therapy;
Follow-Up Studies;
Hemizygote;
Humans;
Hyperammonemia;
Infant, Newborn;
Liver Transplantation*;
Liver*;
Male;
Metabolism;
Ornithine Carbamoyltransferase Deficiency Disease*;
Ornithine Carbamoyltransferase*;
Ornithine*;
Parturition;
Siblings;
Sodium Benzoate;
Urea
- From:Journal of the Korean Pediatric Society
1999;42(6):868-873
- CountryRepublic of Korea
- Language:Korean
-
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.
