eMedicine Specialties > Pediatrics: General Medicine > Nutrition
Biotin Deficiency: Treatment & Medication
Updated: Jun 19, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
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 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).12
- 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.
Surgical Care
No surgical care is needed.
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.
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.
Activity
Activity restrictions are not necessary except in patients with neurologic symptoms (eg, myalgias, hyperesthesias, paresthesias).
Medication
Vitamins
Traditionally, biotin has been considered to be a vitamin B substance. Biotin is an essential coenzyme in fat metabolism and in other carboxylation reactions. Biotin deficiency may result in urinary excretion of organic acids and changes in skin and hair.
Biotin
Functions as a coenzyme or prosthetic group in all 4 of the body's carboxylases. Each carboxylase has a critical role in intermediary metabolism. In these enzymes, biotin serves as a carrier for CO2.
Adult
Biotinidase deficiency: 10-40 mg/d PO/IV/IM; adjust dose depending on severity of deficiency and response to therapy
Pediatric
Biotinidase deficiency: 6-30 mg/d PO/IV/IM; adjust dose depending on severity of deficiency and response to therapy
Oral anticonvulsant medications may interfere significantly with biotin absorption
Documented hypersensitivity (most likely to the preservative; in such cases, another dosage form or brand should be administered; hypersensitivity to biotin itself has never been demonstrated)
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
None reported
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
Boas MA. The Effect of Desiccation upon the Nutritive Properties of Egg-white. Biochem J. 1927;21(3):712-724.1. [Medline].
Adhisivam B, Mahto D, Mahadevan S. Biotin responsive limb weakness. Indian Pediatr. 2007 Mar;44(3):228-30. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Forbes GM, Forbes A. Micronutrient status in patients receiving home parenteral nutrition. Nutrition. Nov-Dec 1997;13(11-12):941-4. [Medline].
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].
Hassan YI, Zempleni J. Epigenetic regulation of chromatin structure and gene function by biotin. J Nutr. Jul 2006;136(7):1763-5. [Medline].
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].
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].
Mock DM. Biotin status: which are valid indicators and how do we know?. J Nutr. Feb 1999;129(2S Suppl):498S-503S. [Medline].
Mock DM. Skin manifestations of biotin deficiency. Semin Dermatol. Dec 1991;10(4):296-302. [Medline].
Mock DM, Dyken ME. Biotin catabolism is accelerated in adults receiving long-term therapy with anticonvulsants. Neurology. Nov 1997;49(5):1444-7. [Medline].
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].
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].
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].
Velazquez A. Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and individuality. Nutrition. Nov-Dec 1997;13(11-12):991-2. [Medline].
Welling DB. Long-term follow-up of hearing loss in biotinidase deficiency. J Child Neurol. 2007 Aug;22(8):1055. [Medline].
Wiznitzer M, Bangert BA. Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. Pediatr Neurol. Jul 2003;29(1):56-8. [Medline].
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.
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
