What is Biotin Deficiency?

Biotin, also known as vitamin H or vitamin B7, is part of the B-vitamin family. This crucial vitamin works with five different types of enzymes, known as carboxylases, to help with various chemical reactions inside our cells. These reactions relate to making new glucose (sugar for energy), processing proteins from the food we eat, and creating fats. To stay healthy, the Food and Nutrition Board of the Institute of Medicine suggests we should consume 30 micrograms (mcg) of biotin per day.

Getting enough biotin from a well-balanced diet isn’t usually a problem because many types of food contain it. These include egg yolk, liver, wheat, oats, spinach, and mushrooms, as well as rice and dairy products, and it’s also present in breast milk. Even our gut bacteria can produce biotin. Typically, people in Western countries get between 35 and 70 mcg of biotin per day from their food. Biotin deficiency is quite rare.

However, some pregnant and breastfeeding women have been observed to have slightly reduced biotin levels, although we don’t precisely know what this means for their health. You can buy biotin supplements, which some people believe can improve the condition of nails, hair, and skin, but evidence to prove these benefits is lacking. In fact, taking biotin supplements can sometimes interfere with certain laboratory tests, leading to possibly incorrect results. While there are reports suggesting high-dose biotin might help with some neurological conditions like multiple sclerosis, we aren’t entirely sure why this would be the case.

What Causes Biotin Deficiency?

Biotin deficiency can be caused by many factors. One reason could be due to rare genetic disorders such as holocarboxylase synthetase deficiency or biotinidase deficiency. Biotinidase deficiency is a hereditary disorder that can lead to severe biotin deficiency and comes with both neurological and skin problems. This can interfere with our body’s ability to break down dietary protein into biotin and affects the working of certain enzymes dependent on biotin. Another cause can be imbalances of bacteria in the gut due to broad-spectrum antibiotics or illnesses affecting our intestines, these imbalances can affect our body’s ability to produce biotin and lead to deficiency.

A deficiency can also be noticed in people who are on intravenous nutrition (feeding through a needle into a vein) if it doesn’t contain biotin. That’s why, it’s important to add the recommended daily dose of biotin to intravenous nutrition, especially if it’s going to be given for more than a week. Nowadays, all hospital pharmacies add biotin to intravenous nutrition.

People who are on certain seizure medicines like carbamazepine, phenytoin, and phenobarbital can also be at risk of biotin deficiency. These medicines might interfere with the body’s ability to absorb biotin, increase its breakdown, or decrease its reabsorption in the kidneys. So, people who are to stay on these medicines for long periods may need biotin supplements.

Long-term use of oral antibiotics may lead to biotin deficiency as well. This could be due to these drugs reducing the gut’s population of good bacteria that help in producing biotin. Another reason could be these antibiotics promoting the growth of bacteria that use up the available biotin.

Also, certain people are more susceptible to having low biotin levels. These include people being treated for acne with isotretinoin, elderly people, individuals with alcohol use disorder, and women smokers. Some studies suggest that a large number of pregnant and breastfeeding women may also have biotin deficiency. This could potentially have harmful effects on the fetus, and hence, these women may be advised to take more biotin.

Cases of biotin deficiency are also reported in severely malnourished children in developing countries and those who consume modified milk without biotin. Even infants fed on hypoallergenic formulas can experience biotin deficiency.

Finally, consumption of large amounts of raw egg whites can cause biotin deficiency. Raw egg whites contain a glycoprotein called avidin which can bind with biotin in our gut and prevent its absorption—this is sometimes referred to as “egg white injury”.

Risk Factors and Frequency for Biotin Deficiency

Insufficient levels of biotin, a crucial nutrient, are surprisingly common during pregnancy. Even with an appropriate diet, around half of pregnant women in the US experience a slight deficiency in biotin. When looking at worldwide statistics, serious biotin deficiency affects 1 in every 112,271 babies, while milder deficiency is found in 1 out of every 129,282 babies. Combined, this means about 1 in every 60,089 newborns have some degree of biotin deficiency. Interestingly, this deficiency is diagnosed more often in White children.

Certain countries like Brazil, Turkey, and Saudi Arabia report higher occurrences. Individuals who consume excessive amounts of alcohol also have comparatively higher rates of biotin deficiency. There’s a specific type of biotin deficiency called biotinidase deficiency, which affects approximately 1 in every 137,401 babies globally, and another type called holocarboxylase synthetase deficiency, that affects about 1 in every 87,000. However, these incidence rates can be much higher in certain populations.

  • Despite eating enough, around half of pregnant women in the US have lower than ideal biotin levels.
  • Worldwide, severe and mild biotin deficiency affects 1 in every 112,271 and 1 in 129,282 newborns respectively, totalling to about 1 in every 60,089 newborns.
  • Certain ethnic groups and countries report higher rates of biotin deficiency.
  • Excessive alcohol consumption can also lead to higher instances of low biotin levels.

In the US, biotin deficiency is more commonly seen in people of Hispanic origin, while the African American population shows lower rates.

Signs and Symptoms of Biotin Deficiency

Biotin deficiency can cause various symptoms in individuals, mainly affecting the skin and nervous system. The most common cause of biotin deficiency is biotinidase deficiency. It’s usually caught early in countries like the U.S. that have newborn screening programs, so many people are diagnosed before showing any symptoms.

Risk factors of biotin deficiency include gastrointestinal disease, inflammatory bowel disease, and certain medications that interfere with biotin metabolism. Medications include those for epilepsy, antibiotics, or isotretinoin.

The skin issues caused by biotin deficiency are due to disruptions in fat metabolism. These symptoms can include hair loss, a red, scaly rash around the eyes, nose, and mouth, known as “biotin-deficient face”. This rash is similar to that seen with zinc deficiency. Additional complications can include eye infections and skin infections.

  • Neurological symptoms
  • Muscle weakness
  • Seizures
  • Balance issues
  • Numbness and tingling in the arms and legs
  • Intellectual disabilities and developmental delays in children
  • Depression
  • Fatigue and hallucinations

If left untreated, the condition can lead to optic atrophy and hearing loss. Biotin deficiency can also cause digestive symptoms, like nausea, vomiting, and poor appetite.

There are other signs of biotin deficiency, like ketoacidosis, lactic acidosis, and organic aciduria. Genetic conditions linked to biotin deficiency, like biotinidase deficiency, can lead to a weakened immune system and increased risk of infections. Symptoms of this condition usually begin when a baby is between one week and one year old.

In pigs, the early signs of biotin deficiency are hair loss, dry skin, and sores on feet and legs, appearing around six months. In humans, eating a diet high in raw eggs can trigger symptoms of biotin deficiency, like skin inflammation.

Once biotin deficiency is confirmed, a physical exam focusing on evaluating the extent of the disease is performed. This exam should include a thorough neurological evaluation, developmental evaluation (for age appropriateness), hearing tests, and vision tests.

Testing for Biotin Deficiency

If your doctor suspects that you may have biotin deficiency, they’ll perform certain tests to confirm this. These involve checking the levels of a substance called 3-hydroxyisovaleric acid in your urine as well as testing for the function of an enzyme known as propionyl-CoA carboxylase in your lymphocytes, a type of white blood cell. Both of these markers can indicate a lack of biotin in your body.

A decrease in activity of an enzyme called beta-methylcrotonyl-CoA carboxylase, leads to increased production of 3-hydroxyisovaleric acid. If its levels in the urine are higher than normal (over 195 micromol/24 hours), it’s considered the most reliable sign of biotin deficiency.

It’s important to know that the concentration of biotin in your blood, is not a reliable way to determine if you’re deficient in biotin. Even in people with biotin deficiency who aren’t taking biotin supplements, their blood’s biotin levels don’t appear to decrease.

When biotin deficiency is a concern, expect a thorough neurological checkup and other tests, like those for vision and hearing. Another concern could be biotinidase deficiency, a disorder that prevents the body from properly utilizing biotin. DNA testing is used to confirm a diagnosis of this disorder. Newborns in the U.S. and over 30 other countries undergo screening for biotinidase deficiency as part of standard testing at birth.

For individuals with biotinidase deficiency, certain changes in the brain have been noticed via MRI scans. These can include a condition called encephalopathy, a low volume of brain tissue, ventriculomegaly which is the enlargement of the ventricles in the brain, and expanded fluid spaces around the brain. But, these conditions can sometimes be reversed with biotin treatment.

Treatment Options for Biotin Deficiency

If you have a biotin deficiency, the treatment primarily involves addressing the root cause. For example, if you inherited a genetic disorder that affects how your body processes biotin, like holocarboxylase synthetase deficiency or biotinidase deficiency, you may need to take biotin supplements for the rest of your life.

If you have biotin deficiency because you’ve been eating too many raw eggs, you’ll need to stop consuming them and start taking biotin. Similarly, if you’re on an anti-seizure medication that causes biotin deficiency, your doctor might recommend changing your medication. Also, if you’ve been using antibiotics for a long time, biotin supplementation might be beneficial.

Biotin supplements that you take by mouth are easily absorbed by the body. Usually, the suggested dosage is about 5 milligrams per day, regardless of what’s causing your biotin deficiency. Still, the recommended amount can vary from 5 micrograms per day for newborn babies to 35 micrograms per day for women who are breastfeeding.

Keep in mind that if you’re taking anti-seizure medications, you may need more biotin than usual. If you have biotinidase deficiency, you usually need to take lifelong doses of biotin, ranging from 5 to 20 milligrams per day, to treat and prevent symptoms of the deficiency.

Lastly, in cases where holocarboxylase synthetase deficiency is detected before birth, taking biotin during pregnancy has been found to be very helpful.

Different health disorders can have similar symptoms, so it’s important to distinguish between them. For example, a particular genetic disorder called a sodium-dependent multivitamin transporter defect can result in a metabolic disorder that’s similar to a deficiency in an essential vitamin known as biotin. In this condition, there are low levels not only of biotin but also of pantothenic acid, and lipoate. A biotin deficiency can also result in symptoms that mirror those seen in acrodermatitis enteropathica, a condition linked to problems with zinc metabolism.

When a person is deficient in biotin, it can cause symptoms that might be confused with zinc deficiency. Biotin is important for maintaining appropriate zinc levels in the skin – though we don’t completely understand the relationship between the two yet. Doctors can tell the difference between a rash caused by a lack of zinc and one from a lack of biotin, as zinc deficiency causes blister-like, scaly lesions around the openings on the face and areas of the body where there’s a lot of rubbing. It also leads to symptoms like cracked skin at the corners of the mouth, hair loss, and nail bed inflammation.

What to expect with Biotin Deficiency

Biotin deficiency is uncommon and generally has a good projected health outlook. If a child is diagnosed with biotinidase deficiency, which is an inability to break down and use biotin, it’s crucial they get treatment quickly and continue taking biotin for life.

If children stop the treatment, they can start showing symptoms again within a few weeks to months. Newborns who are caught with this deficiency at birth and given biotin promptly typically grow up normally without any symptoms. Those who already show symptoms also respond well to biotin treatment.

However, if biotinidase deficiency isn’t caught and managed early, it can lead to permanent problems with brain development. This could result in delayed development and behaviors associated with autism.

Possible Complications When Diagnosed with Biotin Deficiency

Biotin is essential for sustaining cell-related and body’s immune response. When babies and children have a deficiency of biotin due to certain metabolic disorders, they may develop skin yeast infections. Often, this deficiency is also linked to issues like a lack of IgA, a type of antibody, and low counts of T lymphocytes, a class of white blood cells. It can result in the absence of responses to certain skin tests that detect delayed hypersensitivity.

A deficiency in biotin can cause severe brain disorders, but typically, patients react positively to high doses of biotin. Research has discovered that biotin deficiency can cause birth defects in animals. Mice without enough biotin often had babies with physical deformities, including a cleft palate, undersized lower jaw, and unusually short limbs.

Conclusion:
Biotin is crucial for a healthy immune system and proper metabolism. Deficiency can lead to infections, lower immunity, brain disorders, and physical deformities in offspring, based on animal models. Let’s have a look at the key points:

  • Biotin is vital for cell-related and immune response.
  • Deficiency can cause skin yeast infections in infants and children.
  • Patients usually respond well to high biotin doses.
  • Biotin deficiency can cause birth defects, such as a cleft palate, small lower jaw, and short limbs in animal models.

Preventing Biotin Deficiency

It’s common for pregnant women to have low levels of biotin, a type of vitamin, due to their body needing more of it. Similarly, nursing mothers may need more biotin than they usually do. This is important to note because research shows that people with multiple sclerosis (a disease where the protective covering of the nerves is damaged, leading to various health issues), can benefit from high daily doses of biotin (up to 300 mg). This treatment can slow down the progression of the disease and reduce long-term disabilities.

The reason for these positive effects is believed to be that biotin helps produce more myelin (the substance that makes up the protective covering of nerves) which leads to repair of the damaged nerve coverings. In addition, biotin also might help increase energy production in the body and reduce low oxygen levels in the nerves caused by multiple sclerosis.

Frequently asked questions

Biotin deficiency is a condition where there is a lack of biotin in the body. It is quite rare, as most people get enough biotin from their diet.

Biotin deficiency is common, affecting about 1 in every 60,089 newborns worldwide.

Signs and symptoms of Biotin Deficiency include: - Skin issues such as hair loss and a red, scaly rash around the eyes, nose, and mouth (known as "biotin-deficient face"). - Eye infections and skin infections. - Neurological symptoms such as muscle weakness, seizures, balance issues, and numbness and tingling in the arms and legs. - Intellectual disabilities and developmental delays in children. - Depression, fatigue, and hallucinations. - Digestive symptoms like nausea, vomiting, and poor appetite. - Optic atrophy and hearing loss if left untreated. - Other signs such as ketoacidosis, lactic acidosis, and organic aciduria. - Weakened immune system and increased risk of infections in genetic conditions linked to biotin deficiency. - In pigs, early signs include hair loss, dry skin, and sores on feet and legs. - In humans, eating a diet high in raw eggs can trigger symptoms of biotin deficiency, like skin inflammation. To confirm biotin deficiency, a physical exam should be performed, including a thorough neurological evaluation, developmental evaluation, hearing tests, and vision tests.

Biotin deficiency can be caused by factors such as rare genetic disorders, imbalances of bacteria in the gut, intravenous nutrition without biotin, certain seizure medicines, long-term use of oral antibiotics, certain medications, consumption of large amounts of raw egg whites, certain populations and ethnic groups, gastrointestinal disease, inflammatory bowel disease, and certain medications that interfere with biotin metabolism.

A doctor needs to rule out the following conditions when diagnosing Biotin Deficiency: - Biotinidase deficiency - Sodium-dependent multivitamin transporter defect - Acrodermatitis enteropathica - Zinc deficiency

To properly diagnose biotin deficiency, a doctor may order the following tests: 1. Urine test: This involves checking the levels of 3-hydroxyisovaleric acid in the urine. Higher than normal levels of this substance (over 195 micromol/24 hours) can indicate biotin deficiency. 2. Lymphocyte function test: This test measures the function of an enzyme called propionyl-CoA carboxylase in white blood cells known as lymphocytes. A decrease in enzyme activity can suggest biotin deficiency. 3. Neurological checkup: A thorough neurological examination may be performed to assess any neurological symptoms associated with biotin deficiency. 4. Vision and hearing tests: These tests may be conducted to evaluate any vision or hearing problems related to biotin deficiency. 5. DNA testing: If biotinidase deficiency is suspected, DNA testing can be used to confirm the diagnosis. 6. MRI scans: In some cases, MRI scans may be done to assess any brain abnormalities associated with biotin deficiency, such as encephalopathy, low brain tissue volume, ventriculomegaly, and expanded fluid spaces around the brain. It's important to note that the concentration of biotin in the blood is not a reliable indicator of biotin deficiency.

Biotin deficiency is primarily treated by addressing the root cause. Treatment may involve taking biotin supplements for life if the deficiency is caused by a genetic disorder such as holocarboxylase synthetase deficiency or biotinidase deficiency. If the deficiency is due to consuming too many raw eggs, stopping their consumption and starting biotin supplementation is necessary. In cases where biotin deficiency is caused by anti-seizure medication or long-term antibiotic use, the doctor may recommend changing the medication or adding biotin supplementation. The suggested dosage of biotin supplements is typically 5 milligrams per day, but it can vary depending on factors such as age and breastfeeding status. In some cases, higher doses of biotin may be required, such as for individuals taking anti-seizure medications or those with biotinidase deficiency. In cases of holocarboxylase synthetase deficiency detected before birth, taking biotin during pregnancy has been found to be beneficial.

When treating Biotin Deficiency, there are no mentioned side effects.

The prognosis for biotin deficiency is generally good with proper treatment. If a child is diagnosed with biotinidase deficiency, it is crucial that they receive treatment quickly and continue taking biotin for life. Newborns who are caught with this deficiency at birth and given biotin promptly typically grow up normally without any symptoms, and those who already show symptoms also respond well to biotin treatment. However, if biotinidase deficiency isn't caught and managed early, it can lead to permanent problems with brain development, potentially resulting in delayed development and behaviors associated with autism.

A general practitioner or a primary care physician.

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