Avaliação Audiológica em Paciente com Deficiência de Biotinidase

Abstract

INTRODUCTION: Biotinidase (BD) deficiency is an autosomal recessive disorder that occurs due to the failure to recycle the B complex vitamin (biotin, vitamin B7 or Vitamin H). Biotinidase (biotin-amido-hydrolase) (EC3.5.1.12) is the enzyme that recycles the vitamin biotin, which can be obtained through food, by recycling after use by the body or through the production of intestinal microbiota. Biotinidase deficiency, when left untreated between the second and fifth month of life, can lead to changes such as developmental delay, alopecia, skin lesions, optic nerve atrophy, ataxia, hypotonia, seizures, respiratory problems such as hyperventilation , laryngeal stridor, apnea and hearing loss. The diagnosis is made in the Neonatal Screening through the serum dosage of Biotin, which will characterize the patient as having the Partial (DPaB) or Deep (DPB) form. Gene mapping is also performed to better understand the interactions between disease phenotype and genotype. The treatment is through the supplementation of Biotin orally, started soon after the diagnosis. OBJECTIVES: To evaluate the hearing of patients from newborns to adolescents, with partial and profound Biotinidase deficiency, undergoing treatment with Biotin supplementation. METHODS: A total of 42 patients were evaluated, and pertinent audiological assessments and tests were performed, according to the participant's age. The following audiological tests were performed: assessment of auditory behavior, immittance testing, tonal and vocal audiometry, and transient otoacoustic emissions. These data were entered into an Excel spreadsheet version 16.50 and statistically analyzed using the SPSS 25.0 software, considering a significance level of 5% in the analyses. RESULTS: The final sample included 39 patients aged between 2 months and 14 years, with a mean age of 82.34 months. Of the participants, 19 were male (48.72%), aged between 3 months and 14 completed years, with a mean age of 42.42 months; and 20 female patients (51.28%), aged between 2 months and 2 years, with a mean age of 17.61 months. The Auditory Behavior Assessment was performed in 18 children, Transient Otoacoustic Emissions in 23, Tonal Audiometry in 1 and Pediatric Audiometer Assessment in 15 children. All audiological tests were within normal limits or appropriate for the participant's age. CONCLUSION: Patients with partial or profound BD did not present hearing loss in the exams performed. This work highlights the importance of speech therapy monitoring to diagnose hearing loss early, regardless of the classification of BD, in partial or profound, or whether the patient is undergoing treatment or not. It is necessary to consider that hearing loss in patients with BD may not manifest early, but rather late, so that audiological follow-up should be continuous, with periodic assessments.