Biotin Deficiency Treatment & Management

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

Medical Care

Profound biotinidase deficiency can be detected with newborn screening. The most important aspects of the medical care in patients with biotin deficiency include the early recognition of the condition and the prompt institution of therapy with adequate amounts of biotin. The dosage of biotin that should be administered is debated. Some authorities suggest a daily intramuscular injection of 150 µg of biotin. At this dose, symptoms of biotin deficiency begin to resolve within 3-5 days and are essentially absent within 3-5 months.

Others suggest larger doses, (eg, 5-20 mg/d). With larger doses, symptoms may resolve more quickly. These higher doses were empirically determined in studies of patients with biotinidase deficiency. Patients with this disease have tolerated doses as high as 30 mg/d for many months without adverse effects. The following issues must be addressed:

The patient must stop consuming raw eggs.

Include biotin in total parental nutrition (TPN) solutions if therapy is expected to last more than one week.

If the cause of biotin deficiency is anticonvulsant therapy, the anticonvulsant may be changed to another drug that does not interfere with biotin absorption. Alternatively, the required amount of biotin can be administered either intramuscularly or intravenously once a week. In addition, the patient should receive biotin at therapeutic levels daily for 3-5 weeks.

If the cause of biotin deficiency is prolonged oral antibiotic therapy, and if therapy must be continued, the required amount of biotin can be administered either intramuscularly or intravenously once a week. In addition, the patient should receive biotin at therapeutic levels daily for 3-5 weeks.

Fungal skin infections should be treated with the appropriate agents; however, controlling such skin infections may be difficult until the biotin deficiency is corrected.

The importance of prompt treatment was underlined by Weber et al, who assembled a series of 37 children (24 boys, 13 girls).[17] The median age at recruitment was 6 years and 8 months, and the range was age 6 months to 20 years. The median length of follow-up was 6 years and 6 months, and the range was 5 months to 18 years and 3 months.

Each of the 11 symptomatic children possessed residual enzyme activity of less than 1% or had variants of the Michaelis-Menten constant not noted during newborn screening. Michaelis-Menten kinetics describe the rate of enzyme-mediated reactions for many enzymes.

A few of symptomatic patients showed residual physical defects, including hearing impairment (2), optic atrophy (2), and both hearing impairment and optic atrophy (2). Moreover, symptomatic patients were at a higher risk of delayed motor and speech development.

No child whose profound biotinidase deficiency was detected with newborn screening (25) possessed hearing or ophthalmic function loss. In fact, milestones of speech development and motor coordination occurred at the reference age.

Moreover, the level of social adaptation or behavioral problems between symptomatic and asymptomatic children was identical. Symptomatic children usually possess a developmental delay. Symptomatic children were liable to develop damage to hearing, seeing, or neurological dysfunction. If treated based on diagnosis as a newborn, they did not have symptoms.

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Surgical Care

No surgical care is needed.

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Consultations

An experienced dermatologist, neurologist, and biochemical geneticist should evaluate the patient. These specialists should establish the diagnosis and cooperate in the treatment of the patient.

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Diet

The patient should eat a regular, well-balanced diet containing an adequate number of calories as soon as possible. Ensure that this diet contains adequate amounts of biotin. Fortunately, almost all foodstuffs contain significant quantities of biotin, and many widely consumed foods are relatively rich in biotin.

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Activity

Activity restrictions are not necessary except in patients with neurologic symptoms (eg, myalgias, hyperesthesias, paresthesias).

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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

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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.
 
 
 
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