Technical standards and guidelines for the diagnosis of biotinidase deficiency

Tina M. Cowan, Miriam G. Blitzer, Barry Wolf

Research output: Contribution to journalReview articlepeer-review

49 Scopus citations


Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of Results.

Original languageEnglish (US)
Pages (from-to)464-470
Number of pages7
JournalGenetics in Medicine
Issue number7
StatePublished - Jul 2010


  • biotinidase deficiency
  • clinical genetic testing
  • multiple carboxylase deficiency
  • newborn screening
  • technical standards and guidelines

ASJC Scopus subject areas

  • Genetics(clinical)


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