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Xu, R. Ornithine Translocase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4814 (accessed on 27 September 2026).
Xu R. Ornithine Translocase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4814. Accessed September 27, 2026.
Xu, Rita. "Ornithine Translocase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4814 (accessed September 27, 2026).
Xu, R. (2020, December 24). Ornithine Translocase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4814
Xu, Rita. "Ornithine Translocase Deficiency." Encyclopedia. Web. 24 December, 2020.
Ornithine Translocase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ornithine-translocase-deficiency

Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (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

  1. Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. Clinical and functional characterization of a human ORNT1 mutation (T32R) in thehyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res.2006 Oct;60(4):423-9.
  2. Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R,Lambert M, Mitchell GA, Valle D.Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet.1999 Jun;22(2):151-8.
  3. Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J. Cloning andcharacterization of human ORNT2: a second mitochondrial ornithine transporterthat can rescue a defective ORNT1 in patients with thehyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycledisorder. Mol Genet Metab. 2003 Aug;79(4):257-71.
  4. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D,Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, RubioV, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012 May 29;7:32. doi:10.1186/1750-1172-7-32. Review.
  5. Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H,Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V,Huemer M, Dionisi-Vici C. Suggested guidelines for the diagnosis and managementof urea cycle disorders: First revision. J Inherit Metab Dis. 2019Nov;42(6):1192-1230. doi: 10.1002/jimd.12100.
  6. Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G,Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Review.
  7. Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T,Takeshita K, Tsujino S. Diagnosis of Japanese patients with HHH syndrome bymolecular genetic analysis: a common mutation, R179X. J Hum Genet.2001;46(5):260-2.
  8. Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium(UCDC), Batshaw ML. Improving long term outcomes in urea cycle disorders-reportfrom the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 873
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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