Biotin deficiency

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Biotin deficiency
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Biotin
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Biotin deficiency is a nutritional disorder which can become serious, even fatal, if allowed to progress untreated. It can occur in people of any age, ancestry, or of either sex. Biotin is part of the B vitamin family. Biotin deficiency rarely occurs among healthy people because 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 in the kidneys during production of urine.

Contents

Genetic disorders such as multiple carboxylase deficiency (MCD) (which includes biotinidase deficiency and holocarboxylase synthetase deficiency) [1] can also lead to inborn or late-onset forms of biotin deficiency. [2] In all cases – dietary, genetic, or otherwise – supplementation with biotin is the primary (and usually only) [3] method of treatment. [1] [4] The prognosis for congenital MCD is good if biotin supplementation is begun quickly after birth and carried on throughout the patients life. [5]

The average dietary intake of biotin ranges between 35 and 70 micrograms/day in the western population. [2]

Signs and symptoms

Physical

Psychological

Causes

  1. Total parenteral nutrition without biotin supplementation: Several cases [13] 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. [2]
  2. Protein deficiency (not certain): A shortage of proteins involved in biotin homeostasis can cause biotin deficiency. The main problems involved in biotin homeostasis are HCS, BTD (biotinidase deficiency) and SMVT [14]
  3. Anticonvulsant therapy: Prolonged use of certain drugs (especially highly common prescription anti-seizure medications such as phenytoin, primidone, and carbamazepine), may lead to biotin deficiency; however, valproic acid therapy is less likely to cause this condition. [15] Some anticonvulsants (antiepileptic drugs) inhibit biotin transport across the intestinal mucosa. Evidence suggests that these anticonvulsants accelerate biotin catabolism, which means that it's necessary for people to take supplemental biotin, in addition to the usual minimum daily requirements, if they're treated with anticonvulsant medication(s) that have been linked to biotin deficiency.
  4. Severe malnourishment [16] [2]
  5. 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. [2] [17]
  6. 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. 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. [18]

Potential causes

  1. Smoking: Recent studies [14] suggest that smoking can lead to marginal biotin deficiency because it speeds up biotin catabolism (especially in women). [19]
  2. Excessive alcohol consumption [20] (causes a significant reduction in plasma biotin levels)
  3. Excessive consumption of antidiuretics or inadequate levels of antidiuretic hormone [21]
  4. Intestinal malabsorption caused by short bowel syndrome [22]

Biochemistry

Biotin is a coenzyme for five carboxylases in the human body (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and 2 forms of acetyl-CoA carboxylase.) Therefore, biotin is essential for amino acid catabolism, gluconeogenesis, and fatty acid metabolism. Biotin is also necessary for gene stability because it is covalently attached to histones. Biotinylated histones play a role in repression of transposable elements and some genes. Normally, the amount of biotin in the body is regulated by dietary intake, biotin transporters (monocarboxylate transporter 1 and sodium-dependent multivitamin transporter), peptidyl hydrolase biotinidase (BTD), and the protein ligase holocarboxylase synthetase. When any of these regulatory factors are inhibited, biotin deficiency could occur. [23]

Diagnosis

The only reliable method for determining biotin deficiency is the abundance of biotinylated 3-methylcrotonyl-CoA carboxylase and propionyl-CoA carboxylase in lymphocytes. The level of biotin in urine can be used to identify biotin-supplemented individuals, and the level of 3-hydroxyisovaleric acid in urine can (unreliably) detect biotin-deficient patients. [24]

Treatment

In the United States, biotin supplements are readily available without a prescription [25] in amounts ranging from 300 to 10,000 micrograms. [26] 30 micrograms daily is identified as Adequate Intake for men and women 19 years and older. 35 micrograms daily is required for lactating women. [27]

Most healthy individuals meet these recommended intakes, however many still take up to 500 to 1,000 micrograms of biotin daily. [28]

Epidemiology

Deficiency is rare [2] in locations where egg-white enriched or ketogenic diets are common. [29] Pregnancy, however, alters biomarkers of biotin [30] and despite a regular biotin intake, approximately half of the pregnant women in the U.S. are marginally biotin deficient. [14]

See also

Related Research Articles

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<span class="mw-page-title-main">Biotin</span> Chemical compound (vitamin B7)

Biotin (also known as vitamin B7 or vitamin H) is one of the B vitamins. It is involved in a wide range of metabolic processes, both in humans and in other organisms, primarily related to the utilization of fats, carbohydrates, and amino acids. The name biotin, borrowed from the German Biotin, derives from the Ancient Greek word βίοτος (bíotos; 'life') and the suffix "-in" (a suffix used in chemistry usually to indicate 'forming'). Biotin appears as a white, needle-like crystalline solid.

<span class="mw-page-title-main">Abetalipoproteinemia</span> Medical condition

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<span class="mw-page-title-main">Parenteral nutrition</span> Intravenous feeding

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<span class="mw-page-title-main">Biotinidase deficiency</span> Medical condition

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References

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  2. 1 2 3 4 5 6 Saleem, Fatima; Soos, Michael P. (2023), "Biotin Deficiency", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID   31613531 , retrieved 2023-06-19
  3. ↑ "Multiple Carboxylase Deficiency" (PDF). Texas Department of State Health Services. 2023-06-19. Archived (PDF) from the original on 2023-06-19. Retrieved 2023-06-19.
  4. ↑ "Biotinidase Deficiency - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2023-06-19.
  5. ↑ Baumgartner, E. R.; Suormala, T. (1997). "Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism". International Journal for Vitamin and Nutrition Research. 67 (5): 377–384. ISSN   0300-9831. PMID   9350481.
  6. 1 2 3 4 "Office of Dietary Supplements - Biotin". ods.od.nih.gov. Retrieved 2023-06-19.
  7. ↑ Rajendiran, Ashwin; Sampath, Sowmya (2011-09-30). "Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!". BMJ Case Reports. 2011: bcr0720114494. doi:10.1136/bcr.07.2011.4494. ISSN   1757-790X. PMC   3185397 . PMID   22679321.
  8. 1 2 3 Trüeb, Ralph M (2016). "Serum Biotin Levels in Women Complaining of Hair Loss". International Journal of Trichology. 8 (2): 73–77. doi: 10.4103/0974-7753.188040 . ISSN   0974-7753. PMC   4989391 . PMID   27601860.
  9. 1 2 LLC, HealthMatters io. "Biotin | Healthmatters.io". healthmatters.io. Retrieved 2023-06-19.
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  11. ↑ "Biotin". Linus Pauling Institute. 2014-04-22. Retrieved 2023-06-19.
  12. ↑ Abed, Ali-Reza; Abed, Alireza; Banafshe, Hamid Reza; Malekabad, Ebadallah Shiri; Gorgani-firuzjaee, Sattar; Dadashi, Ali-Reza (2021-05-12). "Effect of biotin supplementation on neuropathic pain induced by chronic constriction of the sciatic nerve in the rat". Research in Pharmaceutical Sciences. 16 (3): 250–259. doi: 10.4103/1735-5362.314823 . ISSN   1735-5362. PMC   8216157 . PMID   34221058.
  13. ↑ Innis, S. M.; Allardyce, D. B. (February 1983). "Possible biotin deficiency in adults receiving long-term total parenteral nutrition". The American Journal of Clinical Nutrition. 37 (2): 185–187. doi:10.1093/ajcn/37.2.185. ISSN   0002-9165. PMID   6401910.
  14. 1 2 3 Zempleni, Janos; Hassan, Yousef I; Wijeratne, Subhashinee SK (2008-11-01). "Biotin and biotinidase deficiency". Expert Review of Endocrinology & Metabolism. 3 (6): 715–724. doi:10.1586/17446651.3.6.715. ISSN   1744-6651. PMC   2726758 . PMID   19727438.
  15. ↑ Krause et al. 1982, p. 485.
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  17. ↑ Hayashi, Atsushi; Mikami, Yohei; Miyamoto, Kentaro; Kamada, Nobuhiko; Sato, Toshiro; Mizuno, Shinta; Naganuma, Makoto; Teratani, Toshiaki; Aoki, Ryo; Fukuda, Shinji; Suda, Wataru; Hattori, Masahira; Amagai, Masayuki; Ohyama, Manabu; Kanai, Takanori (2017-08-15). "Intestinal Dysbiosis and Biotin Deprivation Induce Alopecia through Overgrowth of Lactobacillus murinus in Mice". Cell Reports. 20 (7): 1513–1524. doi: 10.1016/j.celrep.2017.07.057 . ISSN   2211-1247. PMID   28813664.
  18. ↑ Mikati, Mohamad A.; Zalloua, Pierre; Karam, Pascale; Habbal, Mohamad-Zuheir; Rahi, Amal C. (November 2006). "Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation". Journal of Child Neurology. 21 (11): 978–981. doi:10.1177/08830738060210110301. ISSN   0883-0738. PMID   17092467. S2CID   26189957.
  19. ↑ Sealey, Wendy M; Teague, April M; Stratton, Shawna L; Mock, Donald M (October 2004). "Smoking accelerates biotin catabolism in women". The American Journal of Clinical Nutrition. 80 (4): 932–935. doi:10.1093/ajcn/80.4.932. ISSN   0002-9165. PMC   1450014 . PMID   15447901.
  20. ↑ Subramanya, Sandeep B.; Subramanian, Veedamali S.; Kumar, Jeyan S.; Hoiness, Robert; Said, Hamid M. (March 2011). "Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms". American Journal of Physiology. Gastrointestinal and Liver Physiology. 300 (3): G494–G501. doi:10.1152/ajpgi.00465.2010. ISSN   0193-1857. PMC   3064116 . PMID   21148397.
  21. ↑ Hoffman, Kristine (January 2015). "When Vitamin And Nutritional Deficiencies Cause Skin And Nail Changes". www.hmpgloballearningnetwork.com. Retrieved 2023-06-19.
  22. ↑ Khalidi, N.; Wesley, J. R.; Thoene, J. G.; Whitehouse, W. M.; Baker, W. L. (1984). "Biotin deficiency in a patient with short bowel syndrome during home parenteral nutrition". Journal of Parenteral and Enteral Nutrition. 8 (3): 311–314. doi:10.1177/0148607184008003311. hdl: 2027.42/141489 . ISSN   0148-6071. PMID   6429370.
  23. ↑ Said, H (2012). "Biotin: Biochemical, Physiological and Clinical Aspects". Water Soluble Vitamins. Subcellular Biochemistry. Vol. 56. pp. 1–19. doi:10.1007/978-94-007-2199-9_1. ISBN   978-94-007-2198-2. PMID   22116691.
  24. ↑ Eng, Wei Kay; Giraud, David; Schlegel, Vicki L.; Wang, Dong; Lee, Bo Hyun; Zempleni, Janos (2013-07-28). "Identification and assessment of markers of biotin status in healthy adults". The British Journal of Nutrition. 110 (2): 321–329. doi:10.1017/S0007114512005065. ISSN   0007-1145. PMC   4743878 . PMID   23302490.
  25. ↑ "Biotin (Oral Route) Description and Brand Names - Mayo Clinic". www.mayoclinic.org. Retrieved 2023-06-19.
  26. ↑ Katzman, Brooke M.; Lueke, Alan J.; Donato, Leslie J.; Jaffe, Allan S.; Baumann, Nikola A. (2018-09-01). "Prevalence of biotin supplement usage in outpatients and plasma biotin concentrations in patients presenting to the emergency department". Clinical Biochemistry. 60: 11–16. doi:10.1016/j.clinbiochem.2018.07.004. ISSN   0009-9120. PMID   30036510. S2CID   51710689.
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  30. ↑ Perry, Cydne A; West, Allyson A; Gayle, Antoinette; Lucas, Lauren K; Yan, Jian; Jiang, Xinyin; Malysheva, Olga; Caudill, Marie A (December 2014). "Pregnancy and Lactation Alter Biomarkers of Biotin Metabolism in Women Consuming a Controlled Diet123". The Journal of Nutrition. 144 (12): 1977–1984. doi:10.3945/jn.114.194472. ISSN   0022-3166. PMC   4230210 . PMID   25122647.

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