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| 1 | Rita Xu | + 703 word(s) | 703 | 2020-12-15 07:33:56 |
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Xu, R. Ornithine Transcarbamylase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4805 (accessed on 27 September 2026).
Xu R. Ornithine Transcarbamylase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4805. Accessed September 27, 2026.
Xu, Rita. "Ornithine Transcarbamylase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4805 (accessed September 27, 2026).
Xu, R. (2020, December 24). Ornithine Transcarbamylase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4805
Xu, Rita. "Ornithine Transcarbamylase Deficiency." Encyclopedia. Web. 24 December, 2020.
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Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
genetic conditions
References
- Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. UreaCycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1217/
- Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M,Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, BonnefontJP, Ottolenghi C, De Lonlay P. Long-term outcomes in Ornithine Transcarbamylasedeficiency: a series of 90 patients. Orphanet J Rare Dis. 2015 May 10;10:58. doi:10.1186/s13023-015-0266-1.
- Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Genotype-PhenotypeCorrelations in Ornithine Transcarbamylase Deficiency: A Mutation Update. J GenetGenomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003.
- Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, YooHW. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. J Hum Genet. 2015 Sep;60(9):501-7.
- Helman G, Pacheco-Colón I, Gropman AL. The urea cycle disorders. Semin Neurol.2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771.
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