Ornithine transcarbamylase (OTC) deficiency

Overview

What is Ornithine Transcarbamylase Deficiency?

Ornithine Transcarbamylase Deficiency (OTC) is an inherited disorder that results in high levels of ammonia in the blood. In its most severe and life-threatening form, OTC can present in boys and (rarely) in girls in the first 2-3 days of life and requires early and rapid recognition and treatment to prevent death. Many of these babies affected by the most severe form of OTC will need a liver transplant in the first 6 months of life to stabilize their health. A serious, but less medically catastrophic form of OTC, partial deficiency, can begin any time of life from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, dangerously high ammonia levels in the blood can occur by events such as a illness and become a life-threatening event at any age. Even with treatment, the high levels of ammonia in the blood that occur in OTC can lead to developmental delay, learning disabilities, intellectual disability, and attention deficit hyperactivity disorder (ADHD).

References
  • http://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency
  • Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine Transcarbamylase Deficiency. 2013 Aug 29 [Updated 2016 Apr 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154378/
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Are there other names for Ornithine Transcarbamylase Deficiency?

How common is Ornithine transcarbamylase deficiency?

What is the usual abbreviation for Ornithine Transcarbamylase Deficiency?

Are there other names for Ornithine Transcarbamylase Deficiency?

Other names for Ornithine Transcarbamylase Deficiency include:

  • OCT deficiency
  • OTC deficiency
  • Ornithine carbamoyltransferase deficiency
How common is Ornithine transcarbamylase deficiency?

Ornithine transcarbamylase deficiency (OTC) is thought to be the most common urea cycle disorder.

The estimated prevalence of OTC is 1 in 14,000 live births with worldwide prevalence estimates range between 1/56,500 to 1/113,000 live births. However some studies report a lower incidence of OTC deficiency in Italy, Finland, and New South Wales, Australia, of 1 in 70,000, 1 in 62,000, and 1 in 77,000 live births, respectively.

Given that males and females with partial OTC deficiency may manifest symptoms at any age, prevalence numbers are likely biased toward the earliest and most severe presentations.

References
What is the usual abbreviation for Ornithine Transcarbamylase Deficiency?

The abbreviation for Ornithine Transcarbamylase Deficiency is OTC.

References
  • http://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency
  • Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine Transcarbamylase Deficiency. 2013 Aug 29 [Updated 2016 Apr 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154378/[/link

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