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MeSH Review

Biotinidase Deficiency

 
 
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High impact information on Biotinidase Deficiency

  • This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach [1].
  • Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation [2].
 

Chemical compound and disease context of Biotinidase Deficiency

  • Newborn screening for biotinidase deficiency (BD) provides prevention of neurological sequelae in patients with low residual enzyme activity by early treatment with oral biotin substitution [3].

References

  1. Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. Mühl, A., Möslinger, D., Item, C.B., Stöckler-Ipsiroglu, S. Eur. J. Hum. Genet. (2001) [Pubmed]
  2. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Weber, P., Scholl, S., Baumgartner, E.R. Developmental medicine and child neurology. (2004) [Pubmed]
  3. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Möslinger, D., Stöckler-Ipsiroglu, S., Scheibenreiter, S., Tiefenthaler, M., Mühl, A., Seidl, R., Strobl, W., Plecko, B., Suormala, T., Baumgartner, E.R. Eur. J. Pediatr. (2001) [Pubmed]
 
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