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 |
- |