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Findings With Unspecified Accuracy

Biotinidase Deficiency: Likelihood Ratios

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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    Tags: Ear Nose and Throat Genetic Metabolic Tag this Diagnosis.

    The likelihood ratios of findings for Biotinidase Deficiency are listed below. See the left navigation bar to change the display.

    Findings With Unspecified Accuracy

    Finding +LR-LR Comments, Study
    Sensorineural hearing loss (SNHL) Edit No accuracy specified.

    Study: no study specified.

    Seizure Edit No accuracy specified.

    Study: no study specified.

    Hypertonia Edit No accuracy specified.

    Study: no study specified.

    Developmental delay Edit No accuracy specified.

    Study: no study specified.

    Ataxia Edit No accuracy specified.

    Study: no study specified.

    Conjunctivitis Edit No accuracy specified.

    Study: no study specified.

    Alopecia Edit No accuracy specified.

    Study: no study specified.