GTR Home > Conditions/Phenotypes > Biotinidase deficiency

Summary

Excerpted from the GeneReview: Biotinidase Deficiency
If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress.

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Practice guidelines

  • CDC, 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEET, Biotinidase Deficiency
  • ACMG Algorithm, 2006
    American College of Medical Genetics Algorithm, Biotinidase Deficiency, 2006
  • EuroGentest, 2012
    Clinical utility gene card for: biotinidase deficiency.

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