Clinical issues and frequent questions about biotinidase deficiency

Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11.


Biotinidase deficiency is a biotin-responsive, inherited neurocutaneous disorder. The disorder is readily treatable and is screened for in the newborn period. Over the years since the discovery of the disorder, many practical questions and issues have been raised as to the diagnosis, management, treatment, and newborn screening of the disorder. In this paper, many of these issues are addressed using evidence-based medicine and anecdotal experiences. If adequate answers are not known, the answers to these queries will require future investigations.

Publication types

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

MeSH terms

  • Animals
  • Biotin / blood
  • Biotin / therapeutic use
  • Biotinidase Deficiency / blood
  • Biotinidase Deficiency / diagnosis*
  • Biotinidase Deficiency / drug therapy
  • Biotinidase Deficiency / genetics
  • Evidence-Based Medicine
  • False Positive Reactions
  • Hearing Loss / diagnosis
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Lysine / analogs & derivatives
  • Lysine / toxicity
  • Neonatal Screening
  • Protein Binding
  • Specimen Handling


  • Biotin
  • biocytin
  • Lysine