eMedicine Specialties > Pediatrics: General Medicine > Nutrition

Biotin Deficiency: Multimedia

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: Jun 19, 2008

Multimedia

Biotin is a bicyclic (more precisely, heterocycli...Media file 1: 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.
Biotin is a bicyclic (more precisely, heterocycli...

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 o...Media file 2: 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.
Carboxybiotin carboxylase is the activated form o...

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 cyc...Media file 3: Depiction of the flow of biotin in the biotin cycle.
Depiction of the flow of biotin in the biotin cyc...

Depiction of the flow of biotin in the biotin cycle.

Biocytin is the product of the complete proteolys...Media file 4: 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.
Biocytin is the product of the complete proteolys...

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 ...Media file 5: The biotin molecule is bound to the protein by a peptide bond to an e-amino group of an apocarboxylase to form a holocarboxylase.
The biotin molecule is bound to the protein by a ...

The biotin molecule is bound to the protein by a peptide bond to an e-amino group of an apocarboxylase to form a holocarboxylase.

More on Biotin Deficiency

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

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. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

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

  14. 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].

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

  16. 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].

  17. 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].

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

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

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

  21. 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].

  22. 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].

  23. 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].

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

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

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

  27. 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.

  28. 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].

Further Reading

Keywords

biotin deficiency, carboxylase, carboxylase deficiency, egg-white injury, egg-white syndrome, egg-white injury syndrome, biotinidase deficiency, inherited biotinidase deficiency, nutritional disorder, severe dermatitis, loss of hair, lack of muscular coordination, avidin, propionyl coenzyme A carboxylase, propionyl CoA carboxylase, PCC, pyruvate carboxylase, PC, β-methylcrotonyl CoA carboxylase, β-MCC, acetyl coenzyme A carboxylase, acetyl CoA carboxylase, ACC, acidosis, hypoglycemia, hyperammonemia, coma, seborrheic dermatitis, fungal infections, erythematous periorofacial macular rash

alopecia, mild depression, somnolence, myalgias, hyperesthesias, paresthesias, profound lassitude, prolonged total parenteral nutrition therapy, TPN therapy, phenytoin, primidone, carbamazepine, prolonged oral antibiotic therapy, biotin deficiency, anticonvulsant use, broad-spectrum antibiotic use, acidosis, hypoglycemia, hyperammonemia

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.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

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 Federation for Clinical Research, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, New York Academy of Sciences, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Mead Johnson Consulting fee Consulting; Mead Johnson Honoraria Speaking and teaching; Dey LP Consulting fee Consulting; Dey LP Honoraria Speaking and teaching; Wyeth Grant/research funds Other; Med Immune Grant/research funds Other; Ovation  None

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 Federation for Clinical Research, American Pediatric Society, American Society for Clinical Nutrition, American Society for Parenteral and Enteral Nutrition, New York Academy of Sciences, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Mead Johnson Consulting fee Consulting; Mead Johnson Honoraria Speaking and teaching; Dey LP Consulting fee Consulting; Dey LP Honoraria Speaking and teaching; Wyeth Grant/research funds Other; Med Immune Grant/research funds Other; Ovation  None

 
 
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