Biotinidase Deficiency Medication

  • Author: Ronald G Davis, MD, MPH, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 27, 2012
 

Medication Summary

Biotin is the drug of choice for biotinidase deficiency.

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Vitamins and cofactors

Class Summary

Organic substances required by the body in small amounts for various metabolic processes. Used clinically for the prevention and treatment of specific deficiency states. Biotin is the DOC for biotinidase deficiency.

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Biotin

 

An essential coenzyme in fat metabolism and in other carboxylation reactions. Biotin deficiency may result in the urinary excretion of organic acids and changes in skin and hair. Functions as a coenzyme or a prosthetic group in all 4 of the body's carboxylases. Each of these carboxylases maintain critical roles in intermediary metabolism. In these enzymes, biotin serves as a carrier for CO2.

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Contributor Information and Disclosures
Author

Ronald G Davis, MD, MPH, FAAP  Assistant Clinical Professor, Child Neurology, Florida State University; Owner and Medical Director of Pediatric Neurology, PA and Pediatric Neurology Epilepsy Center of Central Florida; Medical Director of Epileptology, Arnold Palmer Hospital for Women and Children in Orlando, Florida; Medical Director, Central Florida Muscular Dystrophy Association Clinic

Ronald G Davis, MD, MPH, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Marc P DiFazio, MD  Associate Professor, Department of Neurology, Uniformed Services University of the Health Sciences; Director, Pediatric Subspecialty Services, Shady Grove Adventist Hospital for Children

Marc P DiFazio, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Cerebral Palsy and Developmental Medicine, American Academy of Neurology, Child Neurology Society, and Movement Disorders Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Christian J Renner, MD  Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Grant/research funds PI

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Gompertz D, Draffan GH, Watts JL, Hull D. Biotin-responsive beta-methylcrotonylglycinuria. Lancet. Jul 3 1971;2(7714):22-4. [Medline].

  2. Wolf B, Hsia YE, Sweetman L, et al. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. Jul 1981;68(1):113-8. [Medline].

  3. Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. Nov 1985;18(5):614-7. [Medline].

  4. Tsao CY, Kien CL. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. J Child Neurol. Feb 2002;17(2):146. [Medline].

  5. Perez-Monjaras A, Cervantes-Roldan R, Meneses-Morales I, et al. Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. J Biol Chem. Dec 5 2008;283(49):34150-8. [Medline].

  6. Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. J Child Neurol. Sep 2008;23(9):1043-8. [Medline].

  7. Dahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatr. Sep 2008;45(9):777-9. [Medline].

  8. Zempleni J, Wijeratne SS, Hassan YI. Biotin. Biofactors. Jan-Feb 2009;35(1):36-46. [Medline].

  9. Heard GS, Annison EF. Gastrointestinal absorption of vitamin B-6 in the chicken (Gallus domesticus). J Nutr. Jan 1986;116(1):107-20. [Medline].

  10. Welling DB. Long-term follow-up of hearing loss in biotinidase deficiency. J Child Neurol. Aug 2007;22(8):1055. [Medline].

  11. Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. Jan 5 2012;[Medline].

  12. Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol. Aug 2008;38(8):848-56. [Medline].

  13. [Guideline] Michigan Quality Improvement Consortium. Routine preventive services for infants and children (birth-24 months). May 2007;[Full Text].

  14. Ataman M, Sozeri B, Ozalp I. Biotinidase deficiency: a rare cause of laryngeal stridor. Int J Pediatr Otorhinolaryngol. May 1992;23(3):281-4. [Medline].

  15. Baumgartner ER, Suormala TM, Wick H, et al. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res. Sep 1989;26(3):260-6. [Medline].

  16. Bousounis DP, Camfield PR, Wolf B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics. Aug 1993;24(4):214-7. [Medline].

  17. Burton BK, Roach ES, Wolf B, Weissbecker KA. Sudden death associated with biotinidase deficiency. Pediatrics. Mar 1987;79(3):482-3. [Medline].

  18. Colamaria V, Burlina AB, Gaburro D, et al. Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case. Epilepsia. Sep-Oct 1989;30(5):573-8. [Medline].

  19. Honavar M, Janota I, Neville BG, Chalmers RA. Neuropathology of biotinidase deficiency. Acta Neuropathol (Berl). 1992;84(4):461-4. [Medline].

  20. Kalayci O, Coskun T, Tokatli A, et al. Infantile spasms as the initial symptom of biotinidase deficiency. J Pediatr. Jan 1994;124(1):103-4. [Medline].

  21. Kalkanoglu HS, Dursun A, Tokatli A, et al. A boy with spastic paraparesis and dyspnea. J Child Neurol. May 2004;19(5):397-8. [Medline].

  22. Kimura M, Fukui T, Tagami Y, et al. Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation. J Inherit Metab Dis. 2003;26(7):715-9. [Medline].

  23. Mardach R, Zempleni J, Wolf B, et al. Biotin dependency due to a defect in biotin transport. J Clin Invest. Jun 2002;109(12):1617-23. [Medline].

  24. Mock DM. Skin manifestations of biotin deficiency. Semin Dermatol. Dec 1991;10(4):296-302. [Medline].

  25. Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, et al. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr. May 2001;160(5):277-82. [Medline].

  26. Neto EC, Schulte J, Rubim R, et al. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. Braz J Med Biol Res. Mar 2004;37(3):295-9. [Medline].

  27. Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain. Jul 1998;121 (Pt 7):1267-79. [Medline].

  28. Pidcock FS. Botulinum toxin type A treatment in neurogenetic syndromes. Pediatr Rehabil. Oct-Dec 2005;8(4):298-302. [Medline].

  29. Reed JJ, Rupp T. Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. Pediatr Emerg Care. Jan 2004;20(1):37-9. [Medline].

  30. Riudor E, Vilaseca MA, Briones P, et al. Requirement of high biotin doses in a case of biotinidase deficiency. J Inherit Metab Dis. 1989;12(3):338-9. [Medline].

  31. Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology. Jul 1993;43(7):1351-5. [Medline].

  32. Straussberg R, Saiag E, Harel L, et al. Reversible deafness caused by biotinidase deficiency. Pediatr Neurol. Sep 2000;23(3):269-70. [Medline].

  33. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol. Jul 2004;46(7):481-4. [Medline].

  34. Williams ML, Packman S, Cowan MJ. Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. J Am Acad Dermatol. Jul 1983;9(1):97-103. [Medline].

  35. Wiznitzer M, Bangert BA. Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. Pediatr Neurol. Jul 2003;29(1):56-8. [Medline].

  36. Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol. Jul 2003;5(4):321-328. [Medline].

  37. Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol. Jul 2003;5(4):321-328. [Medline].

  38. Wolf B, Grier RE, Allen RJ, et al. Phenotypic variation in biotinidase deficiency. J Pediatr. Aug 1983;103(2):233-7. [Medline].

  39. Wolf B, Jensen K, Huner G, et al. Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab. Sep-Oct 2002;77(1-2):108-11. [Medline].

  40. Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. Feb 1998;132(2):362-5. [Medline].

  41. Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr. Feb 2002;140(2):242-6. [Medline].

  42. Zempleni J. Uptake, localization, and noncarboxylase roles of biotin. Annu Rev Nutr. 2005;25:175-96. [Medline].

 
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