Ornithine transcarbamylase (OTC) deficiency


What specialist doctors should I see with Ornithine Transcarbamylase Deficiency?

Treatment is best provided by a clinical geneticist and a metabolic dieticican experienced in the treatment of metabolic disease. Treatment of hyperammonemic coma should be provided by a team coordinated by a metabolic specialist in a care center experienced in the management of ornithine transcarbamylase deficiency. Complications of OTC including ADHD and learning/intellectual disability are treated according to the standard of care for these conditions by specialist such a occupational, speech language, and physical therapists. Liver transplant specialists may be added to the team in some situations.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.


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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