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Yang, C. Carbonic Anhydrase VA Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5163 (accessed on 25 September 2026).
Yang C. Carbonic Anhydrase VA Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5163. Accessed September 25, 2026.
Yang, Catherine. "Carbonic Anhydrase VA Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5163 (accessed September 25, 2026).
Yang, C. (2020, December 24). Carbonic Anhydrase VA Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5163
Yang, Catherine. "Carbonic Anhydrase VA Deficiency." Encyclopedia. Web. 24 December, 2020.
Carbonic Anhydrase VA Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency

Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma.

genetic conditions

References

  1. Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M,Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J.Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genet Med. 2016Oct;18(10):991-1000. doi: 10.1038/gim.2015.201.Genet Med. 2016 Jun;18(6):649.
  2. Häberle J. Clinical and biochemical aspects of primary and secondaryhyperammonemic disorders. Arch Biochem Biophys. 2013 Aug 15;536(2):101-8. doi:10.1016/j.abb.2013.04.009.
  3. Pastorekova S, Parkkila S, Pastorek J, Supuran CT. Carbonic anhydrases:current state of the art, therapeutic applications and future prospects. J EnzymeInhib Med Chem. 2004 Jun;19(3):199-229. Review.
  4. Shah GN, Rubbelke TS, Hendin J, Nguyen H, Waheed A, Shoemaker JD, Sly WS.Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicatesboth enzymes in ammonia detoxification and glucose metabolism. Proc Natl Acad SciU S A. 2013 Apr 30;110(18):7423-8. doi: 10.1073/pnas.1305805110.
  5. Sly WS, Hu PY. Human carbonic anhydrases and carbonic anhydrase deficiencies. Annu Rev Biochem. 1995;64:375-401. Review.
  6. van Karnebeek C, Häberle J. Carbonic Anhydrase VA Deficiency. 2015 Apr 2. 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/NBK284774/
  7. van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S,Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H,Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H,Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterationspresents with hyperammonemia in early childhood. Am J Hum Genet. 2014 Mar6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006.
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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 : Catherine Yang
View Times: 1.2K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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