Advertisement

Biotinidase Deficiency

Reference work entry

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

Based on the results of worldwide screening of biotinidase deficiency (Wolf 1991), the incidence of the disorder is one in 137,401 for profound biotinidase deficiency, one in 109,921 for partial biotinidase deficiency, and one in 61,067 for the combined incidence of profound and partial biotinidase deficiency. Carrier frequency in the general population is approximately one in 120.

Synonyms and Related Disorders

Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase defciency

Genetics/Basic Defects

  1. 1.

    An autosomal recessive disorder affecting the endogenous recycling and release of biotin (vitamin H) from dietary protein: consecutive biotin depletion resulting in low activities of biotin-dependent carboxylases...

Keywords

Newborn Screening Sensorineural Hearing Loss Preimplantation Genetic Diagnosis Optic Atrophy Molecular Genetic Testing 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 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.PubMedGoogle Scholar
  2. 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.PubMedCrossRefGoogle Scholar
  3. Davis, R. G., & DiFazio, M. P. (2009). Biotinidase deficiency (Overview). eMedicine from WebMD. Updated May 27, 2009. Available at http://emedicine.medscape.com
  4. 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.PubMedCrossRefGoogle Scholar
  5. Gompertz, D., Draffan, G. H., Watts, J. L., et al. (1971). Biotin-responsive beta-methylcrotonylglycinuria. Lancet, 2, 22–24.PubMedCrossRefGoogle Scholar
  6. Heard, G. S., Secor McVoy, J. R., & Wolf, B. (1984). A screening method for biotinidase deficiency in newborns. Clinical Chemistry, 30, 125–127.PubMedGoogle Scholar
  7. 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.Google Scholar
  8. 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.PubMedCrossRefGoogle Scholar
  9. 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.PubMedCrossRefGoogle Scholar
  10. 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.PubMedCrossRefGoogle Scholar
  11. Secor McVoy, J. R., Heard, G. S., & Wolf, B. (1984). Potential for prenatal diagnosis of biotinidase deficiency. Prenatal Diagnosis, 4, 317–318.PubMedCrossRefGoogle Scholar
  12. 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.PubMedCrossRefGoogle Scholar
  13. Wolf, B. (1991). Worldwide survey of neonatal screening for biotinidase deficiency. Journal of Inherited Metabolic Disease, 14, 923–927.PubMedCrossRefGoogle Scholar
  14. Wolf, B. (1992). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic basis of inherited disease (pp. 2083–2103). NY: McGraw-Hill.Google Scholar
  15. Wolf, B. (1995). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease (7th ed., pp. 3151–3177). NY: McGraw-Hill.Google Scholar
  16. 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
  17. 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.PubMedCrossRefGoogle Scholar
  18. Wolf, B. (2003). Biotinidase deficiency: New directions and practical concerns. Current Treatment Options in Neurology, 5, 321–328.PubMedCrossRefGoogle Scholar
  19. Wolf, B. (2011). Biotinidase deficiency (Overview). Gene reviews. Updated March 15, 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1322/
  20. 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.CrossRefGoogle Scholar
  21. Wolf, B., Heard, G. S., Jefferson, L. G., et al. (1985). Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. The New England Journal of Medicine, 313, 16–19.PubMedCrossRefGoogle Scholar
  22. Wolf, B., Heard, G. S., Weissbecker, K. A., et al. (1985). Biotinidase deficiency: Initial clinical features and rapid diagnosis. Annals of Neurology, 18, 614–617.PubMedCrossRefGoogle Scholar
  23. 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.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Personalised recommendations