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Biotinidase deficiency

Other Names for this Disease
  • Biotin deficiency
  • BTD deficiency
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
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Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin (a vitamin that dissolves in water) that aids in the metabolism of fats, carbohydrates, and proteins. Infants with biotinidase deficiency may have seizures, weak muscle tone, skin rashes, hair loss and delayed development. Daily lifelong treatment with biotin supplements can prevent of manage these symptoms. Biotinidase deficiency is caused by mutations in the BTD gene. It is  inherited in an autosomal recessive fashion.[1]
Last updated: 7/7/2011


  1. Biotinidase deficiency. Genetics Home Reference (GHR). 2008; Accessed 7/7/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Biotinidase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Biotinidase deficiency. Click on the link to view a sample search on this topic.