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KMID : 0391119920010010221
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Ulsan University Medical Journal
1992 Volume.1 No. 1 p.221 ~ p.226
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Amino Acid and Enzyme Assay in Ornithine Transcarbamylase Deficiency
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심정연
홍수종/김기수/문형남/홍창의
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Abstract
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Ornithine trascarbamylase(OTC) deficiency is the most common genetic enzyme deficiency in the urea cycle enzymopathy and is inherited as a sex-linked dominant mode. All of the urea cycle enzymopathies may result 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 3 day old male infant. He was confirmed to
have OTC
deficiency by the enzyme assay of liver tissue.
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KEYWORD
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