Biotin Deficiency: Genetic Reasons for Increasing Biotin

Key takeaways:
~ Biotin is an essential cofactor for mitochondrial energy production.
~ Deficiency of biotin can cause hair loss, brittle nails, or a scaly rash around the mouth.
~ Genetic variants in the BTD enzyme, which is needed for the absorption of biotin from food, can cause biotin deficiency.

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What does Biotin do in the body?

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, 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, which can be used (eventually) for energy production in the Krebs cycle.
• 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 usually abundant in the modern diet because it 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 highest in biotin include:

• egg yolks
• nuts
• meat
• nutritional yeast
• dairy

Biotinidase: Enzyme essential for biotin

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 therefore 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 a 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 (often infected with Candida albicans)[ref]
• Neurological symptoms such as depression, lethargy, tingling, and numbness
• Impaired glucose metabolism

All of these symptoms relate back to the roles that biotin plays as a cofactor — in gluconeogenesis, energy production, synthesis of fatty acids, etc.