Ornithine transcarbamylase (OTC) deficiency


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).


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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