Biotin Deficiency: Check your Genes

Are you dealing with hair loss, brittle nails, or a scaly rash around your mouth? These are all signs of biotin deficiency. Biotin, also known as vitamin B7 or vitamin H, is a cofactor that aids in the metabolism of fats, carbohydrates, and proteins.

This article explains the role of biotin in your cells and also dives into the genetic mutations that can cause a deficiency in biotin. I’ll explain what to check for in your genetic raw data to see if this could be an issue for you.

What does Biotin do in the body?

Biotin, also known as vitamin B7, functions as a cofactor in five different biological pathways.

Biotin is a cofactor involved in the synthesis of fatty acids in the cytosol for use in mitochondrial energy production. Additionally, it is utilized as a cofactor in gluconeogenesis reactions.

Biotin is needed to break down leucine, a branched-chain amino acid. It is also involved in the regulation of gene expression via histone modification.[ref]

As you can imagine, a deficiency in this essential vitamin can affect the body in various ways. Biotin is found in a lot of different foods. Deficiency due to diet is pretty rare, but eating raw egg whites for an extended period can deplete the body of biotin. Foods high in biotin include egg yolks, nuts, meat, and dairy.

Biotinidase Deficiency

Biotinidase is the enzyme involved in the extraction of biotin from food and the recycling of free biotin used in other reactions in the body.

A deficiency in biotinidase can cause someone to have a biotin deficiency, depending on their diet and supplements.

The BTD gene encodes the biotinidase enzyme. Several known BTD mutations affect the function of this enzyme.

  • Profound biotinidase deficiency is defined as having less than 10% of normal enzyme activity.
  • Partial biotinidase deficiency is defined as having normal enzyme activity between 10% and 30%.

Not everyone with a BTD variant is negatively affected by biotinidase deficiency[ref]. Having two BTD mutations makes biotin deficiency more likely.

Biotin deficiency symptoms:

Signs of biotin deficiency can include:

  • brittle fingernails
  • hair loss
  • scaly red rash around mouth, nose, and genitals
  • neurological symptoms such as depression, lethargy, tingling, and numbness
  • impaired glucose metabolism

 


Biotin Genotype Report

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Check your genetic data for rs13078881 D444H (23andMe v4, v5; AncestryDNA)

  • G/G: typical
  • C/G:  less than half of normal enzyme function[ref]
  • C/C: biotinidase deficiency.

Members: Your genotype for rs13078881 is .

 

The following variants can cause biotinidase deficiency in people with two copies of the mutation. These are rare mutations occurring in less than 1% of the population.

Check your genetic data for rs28934601 (23andMe v4, v5; AncestryDNA)

  • A/A: typical
  • A/G: one copy of a  biotinidase deficiency mutation[ref]
  • G/G:  biotinidase deficiency

Members: Your genotype for rs28934601 is .

Check your genetic data for rs13073139 (23andMe v4, v5; AncestryDNA)

  • G/G: typical
  • A/G: one copy of a  biotinidase deficiency mutation[ref]
  • A/A:  biotinidase deficiency

Members: Your genotype for rs13073139 is .

Check your genetic data for rs34885143 (23andMe v4, v5; AncestryDNA)

  • G/G: typical
  • A/G: one copy of a  biotinidase deficiency mutation[ref]
  • A/A:  biotinidase deficiency

Members: Your genotype for rs34885143 is .

Check your genetic data for rs80338684 (23andMe v5)

  • G/G: typical
  • G/T: one copy of a  biotinidase deficiency mutation[ref]
  • T/T:  biotinidase deficiency

Members: Your genotype for rs80338684 is .

 


Lifehacks:

So what happens if you have one copy of a BTD mutation? 

You likely produce less of the biotinidase enzyme and thus get less biotin from food sources. However, this may not cause any problems if your diet contains adequate amounts of biotin.

Keep in mind that biotin usage is increased during pregnancy and if you have liver disease.[ref][ref]

The RDA for biotin is as follows:[ref]

Age Male Female Pregnancy Lactation
Birth to 6 months 5 mcg 5 mcg
7–12 months 6 mcg 6 mcg
1–3 years 8 mcg 8 mcg
4–8 years 12 mcg 12 mcg
9–13 years 20 mcg 20 mcg
14–18 years 25 mcg 25 mcg 30 mcg 35 mcg
19+ years 30 mcg 30 mcg 30 mcg 35 mcg

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Related Articles and Genes:

How do your genes influence your vitamin B12 levels? 
Your genes impact your vitamin B12 needs. Learn about the different genes and check your 23andMe or AncestryDNA data to see how you may be affected.

Should you increase your vitamin C intake? Genetics and vitamin C absorption.
Like most nutrients, our genes play a role in how vitamin C is absorbed, transported, and used by the body. This can influence your risk for certain diseases, and it can make a difference in the minimum amount of vitamin C you need to consume each day.

CYP2A6: Breaking down nicotine and other medications
How many cigarettes a day a person smokes – and how hard it is for them to quit – is at least partly dependent on the CYP2A6 gene. This enzyme also metabolizes several important cancer drugs.

Fatty Liver: Genetic variants that increase the risk of NAFLD
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References:

APJCN – Asia Pacific Journal of Clinical Nutrition. https://apjcn.nhri.org.tw/. Accessed 3 June 2022.

“Biotin.” Linus Pauling Institute, 22 Apr. 2014, https://lpi.oregonstate.edu/mic/vitamins/biotin.

Mock, Donald M. “Marginal Biotin Deficiency Is Common in Normal Human Pregnancy and Is Highly Teratogenic in Mice.” The Journal of Nutrition, vol. 139, no. 1, Jan. 2009, pp. 154–57. PubMed, https://doi.org/10.3945/jn.108.095273.

Office of Dietary Supplements – Biotin. https://ods.od.nih.gov/factsheets/Biotin-HealthProfessional/. Accessed 3 June 2022.

Pabuçcuoğlu, Aysun, et al. “Serum Biotinidase Activity in Children with Chronic Liver Disease and Its Clinical Significance.” Journal of Pediatric Gastroenterology and Nutrition, vol. 34, no. 1, Jan. 2002, pp. 59–62. PubMed, https://doi.org/10.1097/00005176-200201000-00014.

Richards, Sue, et al. “Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.” Genetics in Medicine, vol. 17, no. 5, May 2015, pp. 405–24. DOI.org (Crossref), https://doi.org/10.1038/gim.2015.30.

Sealey, Wendy M., et al. “Smoking Accelerates Biotin Catabolism in Women.” The American Journal of Clinical Nutrition, vol. 80, no. 4, Oct. 2004, pp. 932–35. PubMed, https://doi.org/10.1093/ajcn/80.4.932.

Srinivasan, Padmanabhan, et al. “Chronic Alcohol Exposure Inhibits Biotin Uptake by Pancreatic Acinar Cells: Possible Involvement of Epigenetic Mechanisms.” American Journal of Physiology. Gastrointestinal and Liver Physiology, vol. 307, no. 9, Nov. 2014, pp. G941-949. PubMed, https://doi.org/10.1152/ajpgi.00278.2014.

Swango, K. L., et al. “Partial Biotinidase Deficiency Is Usually Due to the D444H Mutation in the Biotinidase Gene.” Human Genetics, vol. 102, no. 5, May 1998, pp. 571–75. PubMed, https://doi.org/10.1007/s004390050742.

VCV000025016.7 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/25016/. Accessed 3 June 2022.

Wolf, B., et al. “Profound Biotinidase Deficiency in Two Asymptomatic Adults.” American Journal of Medical Genetics, vol. 73, no. 1, Nov. 1997, pp. 5–9. PubMed, https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u.


About the Author:
Debbie Moon is the founder of Genetic Lifehacks. Fascinated by the connections between genes, diet, and health, her goal is to help you understand how to apply genetics to your diet and lifestyle decisions. Debbie has a BS in engineering and also an MSc in biological sciences from Clemson University. Debbie combines an engineering mindset with a biological systems approach to help you understand how genetic differences impact your optimal health.