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

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

73 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)565-575
Number of pages11
JournalGenetics in Medicine
Volume14
Issue number6
DOIs
StatePublished - Jun 2012

Keywords

  • biotin
  • biotinidase
  • biotinidase deficiency
  • carboxylase deficiency
  • mutation analysis
  • newborn screening

ASJC Scopus subject areas

  • Genetics(clinical)

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