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Biotinidase Deficiency

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Abstract

In 1971, Gompertz and colleagues (1971) first described multiple carboxylase deficiency responsive to biotin administration. Wolf and colleagues (1981) further characterized the infantile form of multiple carboxylase deficiency as biotinidase deficiency (BTD) in 1981.

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References

  • Baumgartner, E. R., & Suormala, T. (1997). Multiple carboxylase deficiency: Inherited and acquired disorders of biotin metabolism. International Journal for Vitamin and Nutrition Research, 67, 377–384.

    CAS  PubMed  Google Scholar 

  • Chalmers, R. A., Mistry, J., Docherty, P. W., et al. (1994). First trimester prenatal exclusion of biotinidase deficiency. Journal of Inherited Metabolic Disease, 17, 751–752.

    Article  CAS  PubMed  Google Scholar 

  • Desai, S., Ganesan, K., & Hegde, A. (2008). Biotinidase deficiency: A reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatric Radiology, 38, 848–856.

    Article  PubMed  Google Scholar 

  • Gannavarapu, S., Prasad, C., DiRaimo, J., et al. (2015). Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–20144). Molecular Genetics and Metabolism, 116, 146–151.

    Article  CAS  PubMed  Google Scholar 

  • Gompertz, D., Draffan, G. H., Watts, J. L., et al. (1971). Biotin-responsive beta-methylcrotonylglycinuria. Lancet, 2, 22–24.

    Article  CAS  PubMed  Google Scholar 

  • Heard, G. S., Secor McVoy, J. R., & Wolf, B. (1984). A screening method for biotinidase deficiency in newborns. Clinical Chemistry, 30, 125–127.

    CAS  PubMed  Google Scholar 

  • Heard, G. S., Wolf, B., Jefferson, L. G., et al. (1986). Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study. Journal of Pediatrics, 108, 4046.

    Article  Google Scholar 

  • Möslinger, D., Stockler-Ipsiroglu, S., Scheibenreiter, S., et al. (2001). Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. European Journal of Pediatrics, 160, 277–282.

    Article  PubMed  Google Scholar 

  • Möslinger, D., Mühl, A., Suormala, T., et al. (2003). Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. European Journal of Pediatrics, 162, S46–S49.

    Article  PubMed  Google Scholar 

  • Mühl, A., Möslinger, D., Item, C. B., et al. (2001). Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. European Journal of Human Genetics, 9, 237–243.

    Article  PubMed  Google Scholar 

  • Secor McVoy, J. R., Heard, G. S., & Wolf, B. (1984). Potential for prenatal diagnosis of biotinidase deficiency. Prenatal Diagnosis, 4, 317–318.

    Article  CAS  PubMed  Google Scholar 

  • Szymańska, E., Średzińska, M., Ługowska, A., et al. (2015). Outcomes of oral biotin treatment in patients with biotinidase deficiency – Twenty years follow-up. Molecular Genetics and Metabolism Reports, 5, 33–35.

    Article  PubMed  PubMed Central  Google Scholar 

  • Weber, P., Scholl, S., & Baumgartner, E. R. (2004). Outcome in patients with profound biotinidase deficiency: Relevance of newborn screening. Developmental Medicine and Child Neurology, 46, 481–484.

    Article  PubMed  Google Scholar 

  • Wolf, B. (1991). Worldwide survey of neonatal screening for biotinidase deficiency. Journal of Inherited Metabolic Disease, 14, 923–927.

    Article  CAS  PubMed  Google Scholar 

  • Wolf, B. (2001). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular basis of inherited disease (pp. 3935–3960). New York: McGraw-Hill.

    Google Scholar 

  • Wolf, B. (2002). Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. European Journal of Pediatrics, 161, 167–168.

    Article  CAS  PubMed  Google Scholar 

  • Wolf, B. (2003). Biotinidase deficiency: New directions and practical concerns. Current Treatment Options in Neurology, 5, 321–328.

    Article  PubMed  Google Scholar 

  • Wolf, B. (2013). Biotinidase deficiency (Overview). Gene reviews. Updated 5 Dec 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1322/

  • Wolf, B. (2015). Why screen newborns for profound and partial biotinidase deficiency? Molecular Genetics and Metabolism, 114, 382–387.

    Article  CAS  PubMed  Google Scholar 

  • Wolf, B., Hsia, Y. E., Sweetman, L., et al. (1981). Multiple carboxylase deficiency: Clinical and biochemical improvement following neonatal biotin treatment. Pediatrics, 68, 113–118.

    CAS  PubMed  Google Scholar 

  • Wolf, B., Grier, R. E., Allen, R. J., et al. (1983). Biotinidase deficiency: The enzymatic defect in late-onset multiple carboxylase deficiency. Clinica Chimica Acta, 131, 273–281.

    Article  CAS  Google Scholar 

  • Wolf, B., Heard, G. S., Jefferson, L. G., et al. (1985a). Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. The New England Journal of Medicine, 313, 16–19.

    Article  CAS  PubMed  Google Scholar 

  • Wolf, B., Heard, G. S., Weissbecker, K. A., et al. (1985b). Biotinidase deficiency: Initial clinical features and rapid diagnosis. Annals of Neurology, 18, 614–617.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Biotinidase Deficiency. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_24

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_24

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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