Hearing disorders and biotinidase deficiency: an integrative literature review

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

doi:10.1590/1982-0216/20222410621

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REVIEW ARTICLES • Rev. CEFAC 24 (1) • 2022 • https://doi.org/10.1590/1982-0216/20222410621 copy

Hearing disorders and biotinidase deficiency: an integrative literature review

Authorship SCIMAGO INSTITUTIONS RANKINGS

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

Author(s) (year), Country	Study Design (Sample)	HL (N)	Audiological Findings (Instrument used)	Age range at onset of symptoms (mean age)	Age range at onset of Biotin treatment (mean age)	Improved HL after Biotin use?	Other Findings
Bilge et al. (2020), Turquia¹⁸18. 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. https://doi.org/10.1016/j.msard.2020.102...	Case Report (n=1)	Yes	Bilateral HL with no classification (not available)	1 year	20 years	No	-
Talebi et al. (2016), Irã²2. 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. https://doi.org/10.7874/jao.2016.20.1.53...	Case Report (n=1)	Yes	Bilateral severe/profound HL (audiometry) Type A curve and absent ipsilateral and contralateral reflexes (immitanciometry) Absence of high frequency response (BAEP) Present (TEOAEs)	2 years	Not Available	Not Available	Suggestive of auditory neuropathy
Singh et al, (2015), Índia¹⁹19. 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 https://doi.org/10.7860/JCDR/2015/12958....	Retrospective Observational (n=10)	Yes (N=5) No (N=1) No (N=4)	Bilateral HL with no classification (not available)	1-84 months (35 months)	1-84 months (35 months)	Not Available	The child without HL was the only one diagnosed and treated at 1 month of age.
Cabasson et al. (2015), França⁴4. 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 https://doi.org/10.1016/j.jpeds.2014.11....	Case Study (N=1)	Yes	Mild bilateral HL (audiometry)	Not Available	4 years	No	-
Bhat et al. (2015), Índia²⁰20. Bhat N, Dhotre R, Tawade H. ENT considerations in biotinidase deficiency. Astrocyte. 2015;2(2):101-2. doi: 10.4103/2349-0977.172674. https://doi.org/10.4103/2349-0977.172674...	Case Report (N=1)	Yes	Mild unilateral left HL at 4 months of age (BAEP) Moderate bilateral HL at 9 months (BAEP) Moderate bilateral HL at age 3 years (BAEP) Severe bilateral HL at age 7 years (ASSP) Severe bilateral HL at age 14 years (audiometry)	4 months	2 years and a half	No	-
Desai et al. (2008), Índia²¹21. 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 https://doi.org/10.1007/s00247-008-0904-...	Case Series (n=4)	Yes (N=1) No (N=3)	Bilateral HL with no classification (BAEP)	1-3 months (2 months)	1-3 months (2 months)	No	The child with HL had Profound BD and the others had Partial BD
Welling (2007), EUA²²22. Welling DB. Long-term follow-up of hearing loss in biotinidase deficiency. J Child Neurol. 2007;22(8):1055-7. doi: 10.1177/0883073807305789 https://doi.org/10.1177/0883073807305789...	Case Report (n=1)	Yes (N=1)	Mild bilateral HL at 16 months (audiometry) Mild bilateral HL at 36 months (audiometry) Moderate bilateral HL at 40 months (audiometry) Moderate bilateral HL at 10 age 10 years (audiometry)	16 months	40 months	No	BP stabilized after Biotin use
Genç et al. (2007), Turquia²³23. 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 https://doi.org/10.1016/j.ijporl.2006.11...	Transversal Observational (n=20)	Yes (N=11) No (N=9)	Bilateral HL with no classification (audiometry) Type A curve in all patients (tympanometry) Absent in all children (TEOAEs e DPOAEs) Wave change in asymptomatic children (BAEP)	Age group not available (mean age of children with HL=6.9 months) Age group not available (average age of children without HL= 18.6 months)	Age group not available (mean age of children with HL= 21.5 months) Age group not available (mean age without HL=15.4 months)	No	Six children without HL showed absence of V wave on BAEP. The other three children had no BAEP waveform changes and were treated at birth
Weber et al. (2004), Suiça²⁴24. 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. https://doi.org/10.1017/s001216220400079...	Transversal Observational (n=37)	Yes (N=11) No (N=26)	Bilateral HL without a description of the degree of involvement	No age group available (children with HL=17.5 months) No age group available (children without HL=11 days)	No age group available (children with HL=23 months) No age group available (children without HL=40 days)	Not Available	All children identified at newborn screening and treated had no symptoms
Tsao et al. (2002), EUA²⁵25. 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 https://doi.org/10.1177/0883073802017002...	Case Report (N=1)	Yes	Moderate bilateral HL at 19 months (not available) Normal hearing at 27 meses (not available)	17 months	19 months	Yes	HL improvement at 8 months after Biotin use. The authors reported that it was a rare case
Wolf et al. (2002), EUA¹⁰10. 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.	Retrospective Observational (N=33)	Yes (N=25) No (N=8)	Severe to profound bilateral HL (audiometry)	No age group available (children with HL= 9.6 months) No age group available (children without HL=28 months)	No age group available (children with HL=27.9 months) No age group available (children without HL=42.5 months)	Not Available	No children diagnosed at birth
Straussberg et al. (2000), Israel²⁶26. 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 https://doi.org/10.1016/s0887-8994(00)00...	Case Report (n=1)	Yes	Profound bilateral HL at 3 months of age (BAEP) Moderate bilateral HL at 12 months of age	3 months	3 months	Yes	-
Wastell et al. (1988), Reino Unido²⁷27. 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 https://doi.org/10.1136/adc.63.10.1244...	Case Series (n=10)	Yes (N=5) No (N=5)	Bilateral HL with no classification (not available)	1.5-18 months (8 months)	2.5-24 months (14 months)	Not Available	-
Taitz et al. (1985), Reino Unido²⁸28. 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 https://doi.org/10.1016/0378-3782(85)900...	Case Series (n=3)	Yes (N=2) No (N=1)	Bilateral HL with no classification (not available)	9, 6 and 3 months	15, 19 and 22 months, respectfully	No	-

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[1] Corresponding address: Patrícia Cotta Mancini, Faculty of Medicine, Federal University of Minas Gerais, Avenida Alfredo Balena, 190 sala 251, ZIP CODE: 30.130-100 - Belo Horizonte, Minas Gerais, Brazil, Email: patmancini@gmail.com