eMedicine Specialties > Pediatrics: General Medicine > Nutrition

Biotin Deficiency: Follow-up

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Coauthor(s): Stephanie Beth Freilich, MD, Clinical Instructor, Department of Pediatrics, Mount Sinai School of Medicine; Clinical Assistant, Department of Pediatrics, Mount Sinai Hospital
Contributor Information and Disclosures

Updated: Mar 9, 2010

Follow-up

Further Inpatient Care

  • Inpatient care should not be required to treat patients with biotin deficiency.

Further Outpatient Care

  • Profound biotinidase deficiency can be detected with newborn screening.
  • Follow-up visits should be scheduled every few weeks to ensure that all of the signs and symptoms of the condition have resolved with therapy.
  • Thereafter, no additional outpatient care should be required.

Inpatient & Outpatient Medications

  • Administer biotin in patients with biotin deficiency (see Medication).
  • In addition, antifungal medications may be required to treat patients with fungal infections that develop during the course of biotin deficiency.

Deterrence/Prevention

  • Instruct patients to avoid consuming raw eggs.
  • Include biotin in total parental nutrition (TPN) solutions.
  • Observe patients who are receiving prolonged oral antibiotic treatment or anticonvulsant medications because signs and symptoms suggestive of biotin deficiency may develop. If such signs or symptoms develop, administer supplemental biotin either intravenously or intramuscularly.

Complications

  • Fungal infections

Prognosis

  • The prognosis is excellent.
  • Once biotin therapy has been initiated with the proper dosage, signs and symptoms of biotin deficiency should begin to disappear within 3-5 weeks and completely resolve within 2-3 months.

Patient Education

  • Instruct patients regarding the dangers of consuming raw eggs.
  • Instruct patients who are receiving certain anticonvulsant medications regarding signs and symptoms of biotin deficiency so that they can immediately seek medical attention should signs and symptoms develop.

Miscellaneous

Medicolegal Pitfalls

  • Failure to promptly diagnose biotin deficiency
  • Failure to inform parents or patients that the consumption of even a few raw egg whites may cause biotin deficiency
  • Failure to include biotin in total parental nutrition (TPN) solutions
  • Failure to recognize that some anticonvulsants may interfere with absorption of biotin
  • Failure to recognize that the prolonged use of oral antibiotics may lead to biotin deficiency
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Howard R Sloan, MD, PhD†, to the development and writing of this article.



More on Biotin Deficiency

Overview: Biotin Deficiency
Differential Diagnoses & Workup: Biotin Deficiency
Treatment & Medication: Biotin Deficiency
Follow-up: Biotin Deficiency
Multimedia: Biotin Deficiency
References
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References

  1. Boas MA. The Effect of Desiccation upon the Nutritive Properties of Egg-white. Biochem J. 1927;21(3):712-724.1. [Medline].

  2. Adhisivam B, Mahto D, Mahadevan S. Biotin responsive limb weakness. Indian Pediatr. 2007 Mar;44(3):228-30. [Medline].

  3. 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].

  4. Laszlo A, Schuler EA, Sallay E, et al. Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. J Inherit Metab Dis. 2003;26(7):693-8. [Medline].

  5. Yetgin S, Aytac S, Kalkanoglu S, Coskun T, Ortmann C, Kratz C, et al. Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. Pediatr Hematol Oncol. 2007 Sep;24(6):453-5. [Medline].

  6. Baykal T, Gokcay G, Gokdemir Y, et al. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis. 2005;28(6):903-12. [Medline].

  7. Genc GA, Sivri-Kalkanoglu HS, Dursun A, et al. Audiologic findings in children with biotinidase deficiency in Turkey. Int J Pediatr Otorhinolaryngol. Feb 2007;71(2):333-9. [Medline].

  8. 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. 2008;23:1043-8. [Medline].

  9. Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian Pediatr. 2009;2009:65-7. [Medline].

  10. Mikati MA, Zalloua P, Karam P, Habbal MZ, Rahi AC. Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. J Child Neurol. Nov 2006;21(11):978-81. [Medline].

  11. Moslinger D, Muhl A, Suormala T, Baumgartner R, Stockler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. Dec 2003;162 Suppl 1:S46-9. [Medline].

  12. Schulpis KH, Gavrili S, Tjamouranis J, et al. The effect of neonatal jaundice on biotinidase activity. Early Hum Dev. May 2003;72(1):15-24. [Medline].

  13. Dobrowolski SF, Angeletti J, Banas RA, Naylor EW. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. Feb 2003;78(2):100-7. [Medline].

  14. 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. 2008;38:848-56. [Medline].

  15. 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].

  16. Forbes GM, Forbes A. Micronutrient status in patients receiving home parenteral nutrition. Nutrition. Nov-Dec 1997;13(11-12):941-4. [Medline].

  17. Gonzalez EC, Marrero N, Frometa A, et al. Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. Clin Chim Acta. Jul 15 2006;369(1):35-9. [Medline].

  18. Hassan YI, Zempleni J. Epigenetic regulation of chromatin structure and gene function by biotin. J Nutr. Jul 2006;136(7):1763-5. [Medline].

  19. Higuchi R, Mizukoshi M, Koyama H, Kitano N, Koike M. Intractable diaper dermatitis as an early sign of biotin deficiency. Acta Paediatr. Feb 1998;87(2):228-9. [Medline].

  20. Higuchi R, Noda E, Koyama Y, et al. Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice. Acta Paediatr. Jul 1996;85(7):872-4. [Medline].

  21. Mock DM. Biotin status: which are valid indicators and how do we know?. J Nutr. Feb 1999;129(2S Suppl):498S-503S. [Medline].

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

  23. Mock DM, Dyken ME. Biotin catabolism is accelerated in adults receiving long-term therapy with anticonvulsants. Neurology. Nov 1997;49(5):1444-7. [Medline].

  24. Mock DM, Mock NI, Nelson RP, Lombard KA. Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapy. J Pediatr Gastroenterol Nutr. Mar 1998;26(3):245-50. [Medline].

  25. Mock NI, Malik MI, Stumbo PJ, Bishop WP, Mock DM. Increased urinary excretion of 3-hydroxyisovaleric acid and decreased urinary excretion of biotin are sensitive early indicators of decreased biotin status in experimental biotin deficiency. Am J Clin Nutr. Apr 1997;65(4):951-8. [Medline].

  26. Molteno C, Smit I, Mills J, Huskisson J. Nutritional status of patients in a long-stay hospital for people with mental handicap. S Afr Med J. Nov 2000;90(11):1135-40. [Medline].

  27. 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. 20008;283:34150-8. [Medline].

  28. Velazquez A. Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and individuality. Nutrition. Nov-Dec 1997;13(11-12):991-2. [Medline].

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

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

  31. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3935-62.

  32. Zempleni J, Mock DM. Bioavailability of biotin given orally to humans in pharmacologic doses. Am J Clin Nutr. Mar 1999;69(3):504-8. [Medline].

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Further Reading

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Keywords

biotin deficiency, carboxylase deficiency, egg-white injury, egg-white syndrome, egg-white injury syndrome, biotinidase deficiency, inherited biotinidase deficiency, nutritional disorder, acidosis, hypoglycemia, hyperammonemia, treatment, symptoms, diagnosis

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Optigenex Consulting fee Independent contractor

Coauthor(s)

Stephanie Beth Freilich, MD, Clinical Instructor, Department of Pediatrics, Mount Sinai School of Medicine; Clinical Assistant, Department of Pediatrics, Mount Sinai Hospital
Stephanie Beth Freilich, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and New York County Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Maria Rebello Mascarenhas, MBBS, Associate Professor of Pediatrics, University of Pennsylvania School of Medicine; Section Chief, Division of Gastroenterology and Nutrition, Director, Nutrition Support Service, Children's Hospital of Philadelphia
Maria Rebello Mascarenhas, MBBS is a member of the following medical societies: American Gastroenterological Association, American Society for Parenteral and Enteral Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Jatinder Bhatia, MBBS, Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia
Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Jatinder Bhatia, MBBS, Professor of Pediatrics, Chief, Section of Neonatology, Department of Pediatrics, Medical College of Georgia
Jatinder Bhatia, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Dietetic Association, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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