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A Case of Ornithine Transcarbamylase (OTC) Deficiency

Kwon S, Lee Y, Choe BH, Lee S

  • KMID: 1946283
  • J Korean Pediatr Soc.
  • 2000 Jan;43(1):123-127.
OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of...
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Successful treatment of a child with citrullinemia

Lee KH, Park MS, Hahn SH

  • KMID: 1963057
  • J Genet Med.
  • 1997 Sep;1(1):5-10.
The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or...
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A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency

Lee ES

  • KMID: 2320145
  • Yeungnam Univ J Med.
  • 2007 Dec;24(2):322-328.
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea...
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