Ornithine transcarbamylase (OTC) deficiency


What are the main symptoms of Ornithine Transcarbamylase Deficiency?

An infant with ornithine transcarbamylase deficiency (OTC) will have too much ammonia in the blood (hyperammonemia) and may be lacking in energy or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from OTC may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.

Older individuals with OTC may have similar symptoms to those in the more severe form and/or the appearance of a psychiatric condition with altered mental status, erratic behavior, or a reduced level of consciousness. Headaches, vomiting, aversion to protein foods, and seizures can also occur in this form of OTC. In many cases onset is unexpected. For example, it can present in a seemingly healthy woman who falls into a coma after delivery of a baby.


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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