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Xu, C. Isovaleric Acidemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4194 (accessed on 21 September 2026).
Xu C. Isovaleric Acidemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4194. Accessed September 21, 2026.
Xu, Camila. "Isovaleric Acidemia" Encyclopedia, https://encyclopedia.pub/entry/4194 (accessed September 21, 2026).
Xu, C. (2020, December 23). Isovaleric Acidemia. In Encyclopedia. https://encyclopedia.pub/entry/4194
Xu, Camila. "Isovaleric Acidemia." Encyclopedia. Web. 23 December, 2020.
Isovaleric Acidemia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/isovaleric-acidemia

Isovaleric acidemia is a rare disorder in which the body is unable to properly break down a particular protein building block (amino acid). The condition is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

genetic conditions

References

  1. Ensenauer R, Fingerhut R, Maier EM, Polanetz R, Olgemöller B, Röschinger W,Muntau AC. Newborn screening for isovaleric acidemia using tandem massspectrometry: data from 1.6 million newborns. Clin Chem. 2011 Apr;57(4):623-6.doi: 10.1373/clinchem.2010.151134.
  2. Feinstein JA, O'Brien K. Acute metabolic decompensation in an adult patientwith isovaleric acidemia. South Med J. 2003 May;96(5):500-3.
  3. Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, LehnertW, Ensenauer R. Clinical and neurocognitive outcome in symptomatic isovalericacidemia. Orphanet J Rare Dis. 2012 Jan 25;7:9. doi: 10.1186/1750-1172-7-9.
  4. Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic andphenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006 May15;142C(2):95-103. Review.
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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 : Camila Xu
View Times: 620
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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