Biotinidase deficiency and its impact on the auditory system in Iranian children
Background and Aim: Biotinidase deficiency (BTD) is a rare autosomal recessive abnormality of biotin metabolism. If left untreated, it may lead to auditory symptoms. In this study, we examined the possible relationship between BTD and hearing impairment among Iranian children.
Methods: This descriptive cross-sectional study was performed on 9 children (8 boys, 1 girl) with BTD, who referred to Imam Hossein Hospital in Isfahan City, Iran, in 2018. After collecting their demographic data, including age, gender, weight, height, and history of diseases, we performed routine otolaryngologic and neurologic examination, audiological examinations, including otoscopic, acoustic immittance measurements, and auditory brainstem response (ABR). We recorded cochlear microphonic results in most cases, too.
Results: The subjects’ mean ± SD age of BTD diagnosis was 4.33 ± 5.36 months. Of all participants, 11.1% had a positive family history of the disease, and 66.7% of families had the first-degree consanguineous marriage. About 44.5% of participants had a normal hearing; 22.2% had moderate sensorineural hearing loss, and 33.3% showed no response to ABR test. All subjects showed normal acoustic immittance results. However, children with profound hearing loss showed bilateral absence of acoustic reflexes.
Conclusion: BTD has a high impact on a child’s hearing system. The high prevalence of hearing loss among BTD patients suggests that parents of BTD children (diagnosed at birth) should pay special attention to auditory screening and follow-up programs, as early diagnosis is important for preventing hearing loss. Also, families with first-degree of consanguineous marriages should consider genetic counseling before having children.
2. Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, Wolf B. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neu-ropathy. J Neurol Neurosurg Psychiatry. 2018;89(9):1009-1010. doi: 10.1136/jnnp-2017-316644
3. Venkataraman V, Balaji P, Panigrahi D, Jamal R. Biotinidase deficiency in childhood. Neurol India. 2013;61(4):411-3. doi: 10.4103/0028-3886.117614
4. Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D. [Clinical and genetic findings in patients with biotinidase defi¬ciency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. Med Clin (Barc). 2011;137(11):500-3. Spanish. doi: 10.1016/j.medcli.2011.01.018
5. Wolf B, Heard GS. Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic basis of inherited disease. 6th ed. McGraw-Hill. New York. 1989. p. 2083-2103.
6. 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. doi: 10.1067/mpd.2002.121938
7. Straussberg R, Saiag E, Harel L, Korman SH, Amir J. Reversible deafness caused by biotinidase deficiency. Pediatr Neurol. 2000;23(3):269-70.
8. Sivri HS, Genç GA, Tokatli A, Dursun A, Coşkun T, Aydin HI, et al. Hearing loss in biotinidase deficiency: genotype-phenotype correlation. J Pediatr. 2007;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036
9. Wolf B. Biotinidase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. Gene Reviews. University of Washington: Seattle; 1993-2019.
10. Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L, et al. Audiologic findings in children with biotinidase deficiency in Turkey. Int J Pediatr Otorhinolaryngol. 2007;71(2):333-9. doi: 10.1016/j.ijporl.2006.11.001
11. Cowan TM, Blitzer MG, Wolf B, Working Group of the American College Of Medical Genetics Laboratory Quality Assurance Committee. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med. 2010;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f
12. Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, et al. Novel mutations cause biotinidase deficiency in Turkish children. J Inherit Metab Dis. 2000;23(2):120-8.
13. Pomponio RJ, Ozand PT, Al Essa M, Wolf B. Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. J Inherit Metab Dis. 2000;23(2):185-7.
14. Asgari A, Rouhi Dehnabeh S, Zargari M, Khani S, Mozafari H, Varasteh A. Clinical, biochemical and genetic analysis of biotinidase deficiency in Iranian population. Arch Iran Med. 2016;19(11):774-778. doi: 0161911/AIM.006
15. Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B. Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. Genet Med. 2015;17(3):205-9. doi: 10.1038/gim.2014.104
16. 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
17. 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
18. Afzal RM, Lund AM, Skovby F. The impact of consanguinity on the frequency of inborn errors of metabolism. Mol Genet Metab Rep. 2018;15:6-10. doi: 10.1016/j.ymgmr.2017.11.004
|Issue||Vol 29 No 1 (2020)|
|Biotinidase deficiency; hearing impairment; children|
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