biotinidase deficiency/hearing loss

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Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

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Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

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Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with

Rat as a potential model for hearing loss in biotinidase deficiency.

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Biotinidase deficiency is an inborn error of metabolism that is transmitted as an autosomal recessive disorder. Symptoms include hearing loss, ataxia, blindness, mental retardation, and seizures. The metabolic defect is an inability to recycle the vitamin biotin, which is an important cofactor in

Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.

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Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many of the features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

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OBJECTIVE To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency. METHODS Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease. RESULTS No patient detected by neonatal

Hearing loss in biotinidase deficiency.

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Long-term follow-up of hearing loss in biotinidase deficiency.

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Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.

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Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.

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To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unexplained developmental delay or neurologic abnormalities than in the general population, we studied children seen at a large outpatient clinic over a four-year period who had one or more of these

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

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Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision

Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.

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Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

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Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and

Audiologic findings in children with biotinidase deficiency in Turkey.

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OBJECTIVE Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be

Biotinidase deficiency in childhood.

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This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

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BACKGROUND Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin.

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