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Xu, C. Holocarboxylase Synthetase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4115 (accessed on 29 September 2026).
Xu C. Holocarboxylase Synthetase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4115. Accessed September 29, 2026.
Xu, Camila. "Holocarboxylase Synthetase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4115 (accessed September 29, 2026).
Xu, C. (2020, December 23). Holocarboxylase Synthetase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4115
Xu, Camila. "Holocarboxylase Synthetase Deficiency." Encyclopedia. Web. 23 December, 2020.
Holocarboxylase Synthetase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

genetic conditions

References

  1. Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Antenatal and postnatalradiologic diagnosis of holocarboxylase synthetase deficiency: a systematicreview. Pediatr Radiol. 2016 Mar;46(3):357-64. doi: 10.1007/s00247-015-3492-8.
  2. Baumgartner MR. Vitamin-responsive disorders: cobalamin, folate, biotin,vitamins B1 and E. Handb Clin Neurol. 2013;113:1799-810. doi:10.1016/B978-0-444-59565-2.00049-6. Review.
  3. León-Del-Río A, Valadez-Graham V, Gravel RA. Holocarboxylase Synthetase: AMoonlighting Transcriptional Coregulator of Gene Expression and a CytosolicRegulator of Biotin Utilization. Annu Rev Nutr. 2017 Aug 21;37:207-223. doi:10.1146/annurev-nutr-042617-104653.
  4. Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, PetersH, Pasquini E, Zammarchi E. Clinical findings and biochemical and molecularanalysis of four patients with holocarboxylase synthetase deficiency. Am J MedGenet. 2002 Jul 22;111(1):10-8.
  5. Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL,Mak TW, Sung YM, Cheung KL, Fok TF. A genomic approach to mutation analysis ofholocarboxylase synthetase gene in three Chinese patients with late-onsetholocarboxylase synthetase deficiency. Clin Biochem. 2003 Mar;36(2):145-9.
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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: 538
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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