GetTheDiagnosis.org

Welcome, guest.
Login or Sign up to edit.

Add an entry

Search:
 

Tools

Add a finding for this diagnosis

Add prevalence for this diagnosis

Switch to calculator mode to see positive predictive value

Switch to likelihood ratios

Sort findings by Tag

Sort findings by Differential Diagnosis

Jump To

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.
  • [Edit Diagnosis] [Merge dx] [Add prevalence]

    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.

    Findings With Unspecified Accuracy

    Finding SensitivitySpecificity 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.