Ornithine Transcarbamylase Deficiency 1례

A CASE　OF　ORNITHINE TRANCSSARBAMYLASE DEFICIENCY

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.

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