Biotinidase Deficiency: Sensitivity and Specificity
Introduction: - Biotinidase deficiency is secondary to an absence in the water-soluble B-complex vitamin biotin
If biotinidase deficiency is not recognized and corrected by daily addition of biotin to the diet, affected individuals develop neurologic features such as seizures, hypertonia, developmental delay, ataxia, visual problems, skin rash, alopecia, and conjunctivitis.
In at least 75% of children who become symptomatic, SNHL develops, and can be profound and persistent even after treatment is initiated.
With treatment that consists of biotin replacement, the neurologic and cutaneous manifestations resolve; however, the hearing loss and optic atrophy are usually irreversible.
If a child presents with episodic or progressive ataxia and progressive sensorineural deafness, with or without neurologic or cutaneous symptoms, biotinidase deficiency should be considered.
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The sensitivity and specificity
of findings for Biotinidase Deficiency are listed below.
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