Biotin Deficiency Follow-up

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Jatinder Bhatia, MBBS   more...
 
Updated: Aug 1, 2011
 

Further Inpatient Care

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

Next

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.

Previous
Next

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.

Previous
Next

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.

Previous
Next

Complications

Fungal infections are a concern.

Previous
Next

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.

Previous
Next

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.

Previous
 
Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and 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.

Specialty Editor Board

Maria Rebello Mascarenhas, MBBS  Associate Professor of Pediatrics, University of Pennsylvania School of Medicine; Section Chief of Nutrition, 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.

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.

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.

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 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.

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.

References

  1. Pindolia K, Jordan M, Wolf B. Analysis of mutations causing biotinidase deficiency. Hum Mutat. Jun 15 2010;[Medline].

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

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

  4. 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].

  5. 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].

  6. 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. Sep 2007;24(6):453-5. [Medline].

  7. 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].

  8. 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].

  9. 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].

  10. Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian Pediatr. Jan 2009;46(1):65-7. [Medline].

  11. Joshi SN, Fathalla M, Koul R, Maney MA, Bayoumi R. Biotin responsive seizures and encephalopathy due to biotinidase deficiency. Neurol India. Mar-Apr 2010;58(2):323-4. [Medline].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. 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].

  17. 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].

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

  19. 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].

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

  21. 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].

  22. 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].

  23. Joshi SN, Fathalla M, Koul R, Al Maney M, Bayoumi R. Biotin responsive seizures and encephalopathy due to biotinidase deficiency. Neurol India. 323-4. [Medline]. [Full Text].

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

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

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

  27. 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].

  28. 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].

  29. 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].

  30. 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].

  31. Pindolia K, Jordan M, Wolf B. Analysis of mutations causing biotinidase deficiency. Hum Mutat. Sep 2010;31(9):983-91. [Medline].

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

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

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

  35. 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.

  36. 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].

  37. Bunch M, Singh A. Peculiar neuroimaging and electrophysiological findings in a patient with biotinidasedeficiency. Jan 2011;1:83-86. [Medline].

  38. Komur M, Okuyaz C, Ezgu F, Atici A. A girl with spastic tetraparesis associated with biotinidase deficiency. Eur J Paediatr Neurol. Jan 2011;1:83-6. [Medline].

  39. Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E, et al. Development and characterization ofa mouse with profound biotinidasedeficiency: a biotin-responsiveneurocutaneous disorder. Department of Medical Genetics, Henry Ford Hospital. [Medline].

 
Previous
Next
 
Biotin is a bicyclic (more precisely, heterocyclic) compound composed of an ureido ring (A) fused with a tetrahydrothiophene ring (B). A valeric acid substituent is attached to one of the carbon atoms of the tetrahydrothiophene ring.
Carboxybiotin carboxylase is the activated form of a carboxylase that conducts the actual carboxylation of a substrate. The CO2 residue attached to the nitrogen atom diagonally across from the valeric acid substituent is transferred to the substrate to be carboxylated, and the original carboxylase is liberated intact.
Depiction of the flow of biotin in the biotin cycle.
Biocytin is the product of the complete proteolysis of biotin-containing proteins and peptides. The enzyme biotinidase cleaves biocytin into free biotin and the amino acid lysine. The free biotin is then available for intestinal absorption or intracellular coupling to an apocarboxylase to form a holocarboxylase.
The biotin molecule is bound to the protein by a peptide bond to an e-amino group of an apocarboxylase to form a holocarboxylase.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.