Clinical issues and frequent questions about biotinidase deficiency

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

73 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)6-13
Number of pages8
JournalMolecular Genetics and Metabolism
Volume100
Issue number1
DOIs
StatePublished - May 1 2010

Keywords

  • Biocytin
  • Biotin
  • Biotinidase
  • Biotinidase deficiency
  • Newborn screening

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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