J Korean Pediatr Soc.  1999 Jun;42(6):868-873.

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

• Kim BS
• Kim KM
• Yoo HW
• Lee SG

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.

Keyword

Ornithine transcarbamylase deficiency; Liver transplantation; Diet

MeSH Terms

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
Ammonia
Arginine
Citrulline
Ornithine
Ornithine Carbamoyltransferase
Sodium Benzoate
Urea