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Yang, C. Beta-Ketothiolase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4960 (accessed on 29 September 2026).
Yang C. Beta-Ketothiolase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4960. Accessed September 29, 2026.
Yang, Catherine. "Beta-Ketothiolase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4960 (accessed September 29, 2026).
Yang, C. (2020, December 24). Beta-Ketothiolase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4960
Yang, Catherine. "Beta-Ketothiolase Deficiency." Encyclopedia. Web. 24 December, 2020.
Beta-Ketothiolase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

genetic conditions

References

  1. Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T. Mutation updateon ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2)deficiency. Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831.
  2. Fukao T, Yamaguchi S, Orii T, Hashimoto T. Molecular basis ofbeta-ketothiolase deficiency: mutations and polymorphisms in the humanmitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat. 1995;5(2):113-20. Review.
  3. Grünert SC, Sass JO. 2-methylacetoacetyl-coenzyme A thiolase(beta-ketothiolase) deficiency: one disease - two pathways. Orphanet J Rare Dis. 2020 Apr 28;15(1):106. doi: 10.1186/s13023-020-01357-0.
  4. Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T. Structure andexpression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene.Gene. 1991 Dec 30;109(2):285-90.
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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: 701
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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