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Findings With Unspecified Accuracy

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

    The sensitivity and specificity of findings for Biotinidase Deficiency are listed below. See the left navigation bar to change the display.

    Pre-Test Probability (Prevalence): %. Post-Test Probability (Predictive Value): %. Switch to display mode.
    **Note that calculating probabilities from more than one finding is inherently inaccurate because findings are not independent. (For example, using two positive findings that share a common pathogenesis is likely to overestimate the true probability.)
    Findings With Unspecified Accuracy
    FindingResult SensitivitySpecificity
    [ + ] Sensorineural hearing loss (SNHL) No accuracy specified.
    [ + ] Seizure No accuracy specified.
    [ + ] Hypertonia No accuracy specified.
    [ + ] Developmental delay No accuracy specified.
    [ + ] Ataxia No accuracy specified.
    [ + ] Conjunctivitis No accuracy specified.
    [ + ] Alopecia No accuracy specified.