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GTR Home > Conditions/Phenotypes > Biotinidase deficiency

Biotinidase deficiency

Synonyms
BTD deficiency; Biotin deficiency; Late-onset biotin-responsive multiple carboxylase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from GeneReviews]

Available tests

129 tests are in the database for this condition.

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Clinical tests (129 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Biotinidase Deficiency, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet, [Absent/ Reduced Biotinidase Activity], Biotinidase Deficiency
  • ACMG Algorithm, 2022
    American College of Medical Genetics Algorithm, Biotinidase Deficiency, 2022
  • 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.

Molecular resources

Consumer resources

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