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Ornithine Transcarbamylase Deficiency: Genetics

  1. Luísa Azevedo1,
  2. António Amorim2

Published Online: 16 JUL 2007

DOI: 10.1002/9780470015902.a0005942



How to Cite

Azevedo, L. and Amorim, A. 2007. Ornithine Transcarbamylase Deficiency: Genetics. eLS. .

Author Information

  1. 1

    IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), Porto, Portugal

  2. 2

    IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), Faculdade de Ciências da Universidade do Porto, Porto, Portugal

Publication History

  1. Published Online: 16 JUL 2007


Ornithine transcarbamylase deficiency, the most common urea cycle disorder, is an X-linked trait displaying large phenotypic heterogeneity, which includes cases of symptomatic heterozygotes and wide mutational spectrum. Moreover, de novo mutations are common, particularly in the male gametogenesis, being responsible for as much as three-fourth of female abnormal chromosomes. Recurrent mutations found in different human populations are associated with hypermutable CpG dinucleotides. These features render diagnosis, genetic counselling and treatment particularly difficult. The responsible gene is, however, an excellent model for research on human mutation, due to (a) the mode of transmission (allowing direct haplotype ascertainment and evaluation of the role of recombination, which occurs only in females) and (b) the abundance and diversity of mutations. Treatment strategies involve reduction of protein level intake and stimulation of alternative metabolic pathways or liver transplantation.


  • ornithine transcarbamylase (OTC);
  • deficiency;
  • genetics;
  • mutation;
  • diagnosis;
  • treatment