Ornithine Transcarbamylase Deficiency: A Model for Gene Therapy

  • Manal A. Morsy
  • C. Thomas Caskey
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 368)


Ornithine transcarbamylase (EC deficiency (OTCD) is the most common and severe defect of the urea cycle disorders. It is an X-linked disorder with a high new mutation rate and variable phenotypic consequences. The enzyme catalyses the condensation of carbamyl phosphate and ornithine to citrulline in the second step of the urea cycle. It is expressed mainly in the liver and intestine (approximately 30% of liver levels), and is targeted to the mitochondria in which it assumes its homotrimeric active form.


Cystic Fibrosis Transmembrane Conductance Regulator Primary Hepatocyte Familial Hypercholesterolemia Orotic Acid Ornithine Transcarbamylase 
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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Manal A. Morsy
    • 1
  • C. Thomas Caskey
    • 1
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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