Table 7.

Biotinidase Deficiency: Recommended Surveillance

System/ConcernEvaluationFrequency
Genetics Eval by clinical geneticist or metabolic specialist
  • Annually for those w/profound biotinidase deficiency
  • Every 2 yrs for those w/partial deficiency
Eval of urinary organic acids 1If symptoms return w/biotin therapy (most commonly the result of non-adherence)
Constitutional Measurement of growth parametersAt each visit
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & movement disorders.
Development Monitor developmental progress & educational needs.
Integument Assess for eczematous rash, alopecia, thrush, &/or candidiasis.
Eyes Ophthalmology eval
  • Annually for those w/profound biotinidase deficiency
  • Every 2 yrs for those w/partial deficiency
Hearing Audiology eval
Family/Community Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit
1.

Measurement of biotin concentrations in blood or urine is not useful except to determine adherence to therapy.

From: Biotinidase Deficiency

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