Seventeen novel mutations that cause profound biotinidase deficiency

B. Wolf*, K. Jensen, G. Hüner, M. Demirkol, T. Baykal, P. Divry, M. O. Rolland, C. Perez-Cerdá, M. Ugarte, R. Straussberg, L. Basel-Vanagaite, E. R. Baumgartner, T. Suormala, S. Scholl, A. M. Das, S. Schweitzer, E. Pronicka, J. Sykut-Cegielska

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.

Original languageEnglish
Pages (from-to)108-111
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number1-2
StatePublished - 2002
Externally publishedYes


  • Biotinidase
  • Biotinidase deficiency
  • Mutation


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