Biotinidase Deficiency

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Yang, C. Biotinidase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4985 (accessed on 23 September 2026).

Yang C. Biotinidase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4985. Accessed September 23, 2026.

Yang, Catherine. "Biotinidase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4985 (accessed September 23, 2026).

Yang, C. (2020, December 24). Biotinidase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4985

Yang, Catherine. "Biotinidase Deficiency." Encyclopedia. Web. 24 December, 2020.

Biotinidase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/biotinidase-deficiency

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

genetic conditions

References

Dobrowolski SF, Angeletti J, Banas RA, Naylor EW. Real time PCR assays todetect common mutations in the biotinidase gene and application of mutationalanalysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003Feb;78(2):100-7.
Sivri HS, Genç GA, Tokatli A, Dursun A, Coşkun T, Aydin HI, Sennaroğlu L,Belgin E, Jensen K, Wolf B. Hearing loss in biotinidase deficiency:genotype-phenotype correlation. J Pediatr. 2007 Apr;150(4):439-42. Erratum in: J Pediatr. 2007 Aug;151(2):222. Tokatlý, Ayşegül [corrected to Tokatli, Ayşegül];Aydýn, Halil Ybrahim [corrected to Aydin, Halil Ibrahim].
Wolf B. Biotinidase Deficiency. 2000 Mar 24 [updated 2016 Jun 9]. 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/NBK1322/
Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolicdisease, this is the one to have". Genet Med. 2012 Jun;14(6):565-75. doi:10.1038/gim.2011.6.
Wolf B. Clinical issues and frequent questions about biotinidase deficiency.Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003.
Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab. 2011Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001.Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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