Amino Acid and Enzyme Assay in Ornithine Transcarbamylase Deficiency

Abstract

Ornithine transcarbamylase(OTC) deficiency is the most comon genetic enzyme deficiency in the cycle enzymopathy and is inherited as a sex-linked dominant mode. All of the urea cycle enzymopathies may results in the accumulation of ammonia in serum. This produces clinical symtoms such as episodes of vomiting, lethargy, seizure and coma. If hyperammonemia is not controlled, patient will die ultimately. We experienced a case of hyperammoneic coma in a day old male infant. He was confirmed to have OTC deficiency by the enzyme assay of liver tissue.

Ornithine transcarbamylase(OTC) deficiency is the most comon genetic enzyme deficiency in the cycle enzymopathy and is inherited as a sex-linked dominant mode. All of the urea cycle enzymopathies may results in the accumulation of ammonia in serum. This produces clinical symtoms such as episodes of vomiting, lethargy, seizure and coma. If hyperammonemia is not controlled, patient will die ultimately. We experienced a case of hyperammoneic coma in a day old male infant. He was confirmed to have OTC deficiency by the enzyme assay of liver tissue.