Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"

Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5.


Biotinidase recycles the vitamin biotin. Biotinidase deficiency is an autosomal recessively inherited neurocutaneous disorder. The symptoms of the disorder can be successfully treated or prevented by administering pharmacological doses of biotin. The biotinidase gene (BTD) has been cloned and sequenced; its genomic organization has been determined and more than 150 mutations have been identified. The disorder meets the major criteria for newborn screening and is being universally adopted in the United States and in many countries around the world. Newborn screening will limit our understanding about the natural history of the disorder. Regardless, the disorder is an ideal example of an inherited metabolic disorder that if untreated can result in major disabilities, but if identified early can be readily treated by the oral administration of a vitamin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Biotin / genetics
  • Biotin / metabolism
  • Biotin / therapeutic use*
  • Biotinidase / genetics
  • Biotinidase / metabolism
  • Biotinidase Deficiency / diagnosis*
  • Biotinidase Deficiency / drug therapy*
  • Biotinidase Deficiency / genetics
  • Child
  • Child, Preschool
  • Diet Therapy
  • Humans
  • Infant, Newborn
  • Mutation / genetics*
  • Neonatal Screening / standards


  • Biotin
  • Biotinidase