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https://revistacefac.org.br/article/doi/10.1590/1982-0216/20222410621
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Hearing disorders and biotinidase deficiency: an integrative literature review

Alterações auditivas e deficiência de biotinidase: revisão integrativa da literatura

Tamara Miranda de Azevedo; Elaine Alvarenga de Almeida Carvalho; Sirley Alves da Silva Carvalho; Ana Lúcia Pimenta Starling; Rodrigo Rezende Arantes; Valeska Letícia Gonçalves Rodrigues; Adriane da Silva Assis; Vinícius Soares Garcia; Patrícia Cotta Mancini

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Abstract

Purpose: to review the available literature on the relationship between hearing disorders and Biotinidase deficiency.

Methods: a literature search carried out between October 2018 and August 2021, on the following databases: ELSEVIER, MEDLINE, SciELO, LILACS. Descriptors were used in English, Portuguese, and Spanish. PRISMA tools were used to select the articles and STROBE was used to analyze them.

Literature Review: the selected articles were published between 1983 and 2020 and answered the guiding question of the research. Observational studies, case series studies, and case reports were included. Articles without a methodology description, or carried out by the same author and with the same sample were excluded. The initial search strategy identified 152 articles. After applying the inclusion and exclusion criteria, 14 articles were selected for this review.

Conclusion: the presence of Biotin was often associated with auditory pathways origins. The literature suggested a relationship between Biotinidase deficiency and hearing disorders.

Keywords

Biotinidase, Biotinidase Deficiency, Hearing, Hearing Loss, Speech, Language and Hearing Sciences

Resumo

Objetivo: revisar a literatura disponível sobre a relação entre alterações auditivas e deficiência da biotinidase.

Métodos: a busca foi realizada entre outubro de 2018 e agosto de 2021, nas bases de dados: ELSEVIER, MEDLINE, SciELO, LILACS. Utilizaram-se descritores em português, inglês e espanhol, além das ferramentas PRISMA para seleção dos artigos e STROBE para análise dos mesmos.

Revisão da Literatura: foram selecionados artigos publicados entre 1983 e 2020 que respondiam à pergunta norteadora da pesquisa. Foram incluídos estudos observacionais, estudos de série de casos e relatos de caso, e excluídos os artigos sem descrição dos métodos utilizados, realizados pelo mesmo autor e com a mesma amostra. A estratégia de busca inicial identificou 152 artigos. Após aplicados os critérios de inclusão e exclusão, 14 artigos foram incluídos na presente revisão.

Conclusão: a presença de biotina foi frequentemente associada à gênese das vias auditivas. Foi observada uma relação sugerida pela literatura entre deficiência da biotinidase e alterações auditivas.

Palavras-chave

Biotinidase; Deficiência de Biotinidase; Audição; Perda Auditiva; Fonoaudiologia

Referências

1. Arantes RR, Rodrigues VM, Norton RC, Starling ALP. Biotinidase deficiency: from neonatal screening to diagnostic confirmation and treatment. Rev Med Minas Gerais. 2016;26(5):S48-S51.

2. Talebi H, Yaghini O. Auditory neuropathy/dyssynchrony in biotinidase deficiency. J Audiol Otol. 2016;20(1):53-4. doi: 10.7874/jao.2016.20.1.53.

3. Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo Jr JS et al. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One. 2017;12(5):e0177503. doi: 10.1371/journal.pone.0177503

4. Cabasson S, Rivera S, Mesli S, Dulubac E. Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. J Pediatr. 2015;166(3):771-1.e1. doi: 10.1016/j.jpeds.2014.11.023

5. Lara MT, Aguiar MJB, Giannetti JG, Januario JN. Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening. Rev Med Minas Gerais. 2013;24(3):388-96.

6. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. Cerebral metabolic change after treatment in biotinidase deficiency. J Inherit Metab Dis. 1993;16(2):399-407. doi: 10.1007/BF00710288.

7. Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu Sl. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003;162(Suppl 1):S46-49. doi: 10.1007/s00431-003-1351-3.

8. Neto EC, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C et al. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. Braz J Med Biol Res. 2003;37(3):295-99.

9. Canda E, Kalkan Uçar S, Çoker M. Biotinidase deficiency: prevalence, impact and management strategies. Pediatric Health Med Ther. 2020;11:127-33. doi: 10.2147/PHMT.S198656. PMID: 32440248; PMCID: PMC7211084

10. Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr. 2002;140(2):242-6.

11. Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab. 2010;100(1):6-13. doi:10.1016/j.ymgme.2010.01.003

12. Strovel ET, Cowan TM, Scott AI, Wolf B. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(10):Oct. doi:10.1038/gim.2017.84

13. Wolf B. Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have. Genet Med. 2012;14(6):565-75. doi: 10.1038/gim.2011.6.

14. Maheras JK, Pindolia K, Wolf B, Gow A. Developmental window of sensorineural deafness in biotinidase-deficient mice. J Inherit Metab Dis. 2017;40(5):733-44. doi: 10.1007/s10545-017-0049-z.

15. Ercole FF, Melo LS, Alcoforado CLGC. Revisão Integrativa versus Revisão Sistemática. Rev Min Enferm. 2014;18(1):9-11. doi: 10.5935/1415-2762.20140001

16. Moher D, Liberati A, Tetzlaff J, Altman DG. The PRISMA Group 2009. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA Statement. PLoS Med. 2009;6(6):e1000097. https://doi.org/10.1371/journal.pmed.1000097

17. Malta M, Cardoso LO, Bastos FI, Magnanini MMF, Silva CMFP. STROBE initiative: guidelines on reporting observational studies. Rev Saúde Pública. 2010;44(3):559-65.

18. Bilge N, Yevgi R. Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder. Mult Scler Relat Disord. 2020;44:102280. doi: 10.1016/j.msard.2020.102280.

19. Singh A, Lomash A, Pandey S, Kapoor S. Clinical, biochemical and outcome profile of biotinidase deficient patients from Tertiary Centre in Northern India. J Clin Diagn Res. 2015;9(12):SC08-SC10. doi: 10.7860/JCDR/2015/12958.6941

20. Bhat N, Dhotre R, Tawade H. ENT considerations in biotinidase deficiency. Astrocyte. 2015;2(2):101-2. doi: 10.4103/2349-0977.172674.

21. Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol. 2008;38(8):848-56. doi: 10.1007/s00247-008-0904-z

22. Welling DB. Long-term follow-up of hearing loss in biotinidase deficiency. J Child Neurol. 2007;22(8):1055-7. doi: 10.1177/0883073807305789

23. Genç GA, Sivri KHS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L et al. Audiologic findings in children with biotinidase deficiency in Turkey. Int J Ped Otorhinolaryngol. 2006;71(2):333-9. doi: 10.1016/j.ijporl.2006.11.001

24. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol. 2004;46(7):481-4. doi: 10.1017/s0012162204000799.

25. Tsao CY, Kien CL. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. J Child Neurol. 2002;17(2):146. doi: 10.1177/088307380201700212

26. Straussberg R, Saiag E, Harel L, Korman SH, Amir J. Reversible deafness caused by biotinidase deficiency. Pediatr Neurol. 2000;23(3):269-70. doi: 10.1016/s0887-8994(00)00190-9

27. Wastell HJ, Bartlett K, Dale G, Shein A. Biotinidase deficiency: a survey of 10 cases. Arch Dis Child. 1988;63(10):1244-9. doi: 10.1136/adc.63.10.1244

28. Taitz LS, Leonard JV, Bartlett K. Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev. 1985;11(3-4):325-31. doi: 10.1016/0378-3782(85)90086-6

29. Wolf B, Grier RE, Heard GS. Hearing loss in biotinidase deficiency. Lancet. 1983;2:1365.
 


Submetido em:
02/02/2021

Aceito em:
11/10/2021

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