Ornithine Transcarbamylase Deficiency 1례

• 영문명: A CASE OF ORNITHINE TRANCSSARBAMYLASE DEFICIENCY
• 발행기관: 대한소아신경학회
• 저자명: 이윤희(Yoon Hee Lee) 오세욱(Se Wook Oh) 이종군(Chong Guk Lee,) 김상우(Sang Woo Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제3권 제2호, 194~199쪽, 전체 6쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1996.05.20

영문 초록

Ornithine Transcarbamylase(OTC) Deficiency is the most common inborn error of the urea cycle in infants. It is responsible for lethal neonatal hyperammonemia in males. The affected infants are manifested by vomiting, tachypnea, lethalgy and hyperammonic coma that often leads to death. We report the male patient who presented after 3 days of age with OTC deficiency. In this parient, the plasma ammonemia was controlled by the use of benzoate-phenylacetate-arginine regimen and the peritoneal dialysis.

키워드

Hyperammonemia Ornithine Transcarbamylase(OTC)