Immunochemical Assay in 16 Boys with Ornithine Transcarbamylase Deficiency

  • B. Francois
  • P. Briand
  • L. Cathelineau
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)


Enzymatic activities and kinetics of liver ornithine transcarbamylase (OTC) were studied in sixteen human male infants with an OTC mutation. In the same liver fragments, cross reacting material (CRM) was measured with anti-OTC monospecific antibody. These studies allow us to describe five groups of mutations.


Urea Cycle Mutant Enzyme Radial Immunodiffusion Ornithine Transcarbamylase Urea Cycle Disorder 
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Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • B. Francois
    • 1
  • P. Briand
    • 2
  • L. Cathelineau
    • 2
  1. 1.Neuropediatric DepartmentLouvain UniversityBrusselsBelgium
  2. 2.Biochemical Genetics LaboratoryHôpital Enfants MaladesParisFrance

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