Biotin deficiency

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Biotin deficiency
Classification and external resources

Biotin
ICD-10 E53.8
ICD-9 266.2
eMedicine ped/238

Biotin deficiency is a rare nutritional disorder which can become serious, even fatal, if allowed to progress untreated. It can occur in people of any age, ancestry, or gender.

Biotin deficiency rarely occurs among healthy people, since the daily requirement of biotin is low, many foods provide adequate amounts of it, intestinal bacteria synthesize small amounts of it, and the body effectively scavenges and recycles it from bodily waste. However, deficiencies can be caused by consuming raw egg whites over a period of months to years. Egg whites contain high levels of avidin, a protein that binds biotin strongly. When cooked, avidin is denatured and becomes entirely non-toxic.

Contents

[edit] Causes

Causes of biotin deficiency include the following:

  1. Eating raw egg whites: Some mistakenly believe that raw egg-white consumption is the only cause of biotin deficiency. Nonetheless, a diet that contains raw egg whites quickly and almost invariably leads to biotin deficiency.
  2. Total parenteral nutrition without biotin supplementation: Several cases of biotin deficiency in patients receiving prolonged total parenteral nutrition (TPN) therapy without added biotin have been reported. Therefore, all patients receiving TPN must also receive biotin at the recommended daily dose, especially if TPN therapy is expected to last more than 1 week. All hospital pharmacies currently include biotin in TPN preparations.
  3. Anticonvulsant therapy: Prolonged use of certain drugs, especially phenytoin, primidone, and carbamazepine, may lead to biotin deficiency; however, valproic acid therapy does not cause this condition. Some anticonvulsants inhibit biotin transport across the intestinal mucosa. Evidence suggests that these anticonvulsants accelerate biotin catabolism. Therefore, supplemental biotin, in addition to the usual minimum daily requirements, has been suggested for patients who are treated with anticonvulsants that have been linked to biotin deficiency.
  4. Prolonged oral antibiotic therapy: Prolonged use of oral antibiotics has been associated with biotin deficiency. Alterations in the intestinal flora caused by the prolonged administration of antibiotics are presumed to be the basis for biotin deficiency.
  5. Genetic mutation: Mikati et al (2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy.8 The boy presented with perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. The child's neurologic symptoms abated following biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the child was homozygous for a novel E64K mutation and that his mother and father were heterozygous for the novel E64K mutation.


[edit] Symptoms

Initial symptoms of biotin deficiency include:

  1. Dry skin
  2. Seborrheic dermatitis
  3. Fungal infections
  4. Rashes including red, patchy ones near the mouth (erythematous periorofacial macular rash)
  5. Fine and brittle hair
  6. Hair loss or total baldness (alopecia)

If left untreated, neurological symptoms can develop, including:

  1. Mild depression, which may progress to profound lassitude and, eventually, to somnolence
  2. Changes in mental status
  3. Generalized muscular pains (myalgias)
  4. Hyperesthesias and paresthesias

[edit] Treatment

Biotin deficiency is easily corrected by biotin tablets, which are inexpensive and readily available. If overconsumption of raw egg whites is responsible, a change in diet may be appropriate.

[edit] See also

  • Biotinidase deficiency, which is not due to inadequate biotin, but rather to a deficiency in the enzymes which process it.

[edit] 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].
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