Forty-eight novel mutations causing biotinidase deficiency

Melinda Procter, Barry Wolf*, Rong Mao

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms. The symptoms can be ameliorated or prevented by administering pharmacological doses of biotin. Since 2008, approximately 300 samples have been submitted to ARUP's Molecular Sequencing Laboratory for biotinidase mutation analysis. Of these, 48 novel alterations in the biotinidase gene have been identified. Correlating the individual's serum enzymatic activity with the genotype, we have been able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals. The novel mutations and uncertain alterations have been added to the database established by ARUP (. to help clinicians make decisions about management and to better counsel their patients based on their genotypes.

Original languageEnglish (US)
Pages (from-to)369-372
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Mar 1 2016


  • Biotin-responsive
  • Biotinidase
  • Biotinidase deficiency
  • Mutation
  • Mutation database

ASJC Scopus subject areas

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


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