|
KMID : 0391519960030020194
|
|
Journal of the Korean Child Neurology Society
1996 Volume.3 No. 2 p.194 ~ p.199
|
|
|
A Case Of Ornithine Transcarbamylase Deficiency
|
|
이윤희
오세욱/이종국/김상우
|
|
|
Abstract
|
|
|
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 wht presented after 3 days of age with OTC deficiency. In this patient, the plasma ammonemia was controlled by the use of benzoate-phenylacetate-arginine regimen and the
peritoneal
dialysis.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|