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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ornithine transcarbamylase deficiency


Other Names for this Disease

  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
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Inheritance

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How is ornithine transcarbamylase (OTC) deficiency inherited?

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.[1]

In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of OTC deficiency.[1]
Last updated: 3/4/2011

References
  1. Ornithine transcarbamylase deficiency. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 3/4/2011.


Other Names for this Disease
  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.