Genetics 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.  Biotin deficiency due to diet is pretty rare, but eating raw egg whites for an extended period of time can deplete the body of biotin.  Foods that are high in biotin include egg yolks, nuts, meat, and dairy.

The Linus Pauling Institute website has a great in-depth review of biotin that includes information on deficiency symptoms and the function of this vitamin in the body.

Biotinidase Deficiency

Biotinidase is the enzyme involved in the extraction of biotin from food and also in the recycling of free biotin that has been used in another reaction in the body.

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

Note that not everyone with a BTD variant is affected by biotinidase deficiency[ref], but for most, a homozygous polymorphism will result in biotinidase deficiency.

So what happens if you are heterozygous for one of these polymorphisms?  There isn’t a lot of concrete information about it, but you should produce less of the biotinidase enzyme and thus get less biotin from food sources.  Biotin is a water-soluble vitamin and not thought to be toxic at higher levels, so trying a biotin supplement may be worthwhile.


Check your genetic data:


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

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

Members: Your genotype for rs13078881 is .

 

The following SNPs are considered pathogenic for biotinidase deficiency for those who are homozygous (two copies) for the mutation. These are rare mutations occurring in less than 1% of the population. (This is not a complete list.)

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:

If you are heterozygous for one of the BTD polymorphisms and have symptoms of biotin deficiency, biotin supplements are readily available.  It is a water-soluble vitamin and not known to be toxic.  Good food sources of biotin include nutritional yeast, which has over 200 mcg per 100g, and chicken liver which has 170 mcg per 130g.[ref]

One thing to note is that higher doses of supplemental biotin can cause errors on lab tests for a variety of hormones and diseases. Here is an article explaining it.


Related Genes and Topics:

How do your genes influence your vitamin B12 levels? (members article)
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.

 

 



Author Information:   Debbie Moon
Debbie Moon is the founder of Genetic Lifehacks. She holds a Master of Science in Biological Sciences from Clemson University and an undergraduate degree in engineering. Debbie is a science communicator who is passionate about explaining evidence-based health information. Her goal with Genetic Lifehacks is to bridge the gap between the research hidden in scientific journals and everyone's ability to use that information. To contact Debbie, visit the contact page.