Question 1

What is Biotinidase Deficiency?

Accepted Answer

Biotinidase deficiency is a rare inherited metabolic disorder that prevents the body from recycling biotin (vitamin B7). It is caused by mutations in the BTD gene that result in deficient or absent biotinidase enzyme activity. The Biotin (Vitamin B7) blood test is the most important supporting test for this condition because it measures biotin levels that become depleted when the body cannot recycle this essential vitamin.

Question 2

What causes biotinidase deficiency?

Accepted Answer

Biotinidase deficiency is caused by mutations in the BTD gene that produces the biotinidase enzyme. This enzyme is responsible for releasing biotin from dietary proteins and recycling it for reuse in essential metabolic processes. When the gene is mutated, the enzyme either does not work properly or is absent entirely, preventing the body from accessing and reusing biotin even when dietary intake is adequate. This is an autosomal recessive condition, meaning a child must inherit one mutated gene from each parent to develop the disorder.

Question 3

What is the best test for biotinidase deficiency?

Accepted Answer

The Biotin (Vitamin B7) blood test is the most important supporting test for biotinidase deficiency because it measures the actual biotin levels in your blood. When your body cannot recycle biotin due to enzyme deficiency, blood biotin levels drop significantly. While newborn screening typically uses specialized enzyme activity assays to measure biotinidase enzyme function directly, the biotin blood test provides critical information about the severity of biotin depletion and is essential for monitoring how well biotin supplementation therapy is working. Low biotin levels combined with clinical symptoms strongly suggest this metabolic disorder and guide treatment decisions.

Question 4

When should I get tested for biotinidase deficiency?

Accepted Answer

You should get tested if you or your child experiences symptoms like skin rashes, hair loss, developmental delays, seizures, hearing loss, or vision problems. Most cases are identified through newborn screening programs, but late-onset forms can appear in older children or adults. If you have a family history of biotinidase deficiency or notice neurological symptoms combined with skin issues, testing is important. Early detection through blood work prevents irreversible neurological damage and allows for prompt biotin supplementation treatment.

Question 5

What are the symptoms of biotinidase deficiency?

Accepted Answer

Symptoms of biotinidase deficiency typically appear between ages 1 week to 10 years if untreated. You might notice a red, scaly skin rash (often around the eyes, nose, and mouth), hair loss including loss of eyebrows and eyelashes, and developmental delays. Neurological symptoms include seizures, weak muscle tone, hearing loss, vision problems, and difficulty with coordination. Some people develop breathing problems, fungal infections, or conjunctivitis. In profound biotinidase deficiency, symptoms are more severe and appear earlier, while partial deficiency may cause milder symptoms that develop later in childhood or adulthood.

Question 6

Who is at risk for biotinidase deficiency?

Accepted Answer

Anyone can develop biotinidase deficiency, but you are at higher risk if both of your parents carry a mutated BTD gene. The condition occurs in approximately 1 in 60,000 births worldwide. Turkish and European populations have slightly higher rates. If you have a sibling with biotinidase deficiency, your risk is 25% if both parents are carriers. Consanguinity (when parents are blood relatives) increases risk because the chance of both parents carrying the same mutated gene is higher. Genetic counseling is recommended for families with a history of this disorder or for couples who are known carriers.

Question 7

What happens if biotinidase deficiency is left untreated?

Accepted Answer

Untreated biotinidase deficiency leads to irreversible neurological damage including permanent hearing loss, vision impairment, developmental disabilities, and intellectual disability. Seizures can become severe and difficult to control. The skin rashes and hair loss worsen over time, and repeated infections become common. Some people develop breathing difficulties and metabolic crises that can be life-threatening. The most concerning aspect is that neurological damage that occurs before treatment cannot be reversed, even with biotin supplementation. However, when biotinidase deficiency is detected early through newborn screening and treated immediately with daily biotin supplements, children develop completely normally with no symptoms or complications.

Question 8

Can biotinidase deficiency be diagnosed with a blood test?

Accepted Answer

Yes, biotinidase deficiency can be diagnosed through blood tests. Newborn screening programs use dried blood spot tests to measure biotinidase enzyme activity directly. The Biotin (Vitamin B7) blood test measures biotin levels in the blood and provides important supporting evidence when biotin levels are abnormally low. Additional confirmatory testing includes measuring biotinidase enzyme activity in serum and genetic testing to identify specific BTD gene mutations. Blood tests can also detect organic acids and other metabolic markers that accumulate when biotin is deficient. These tests are simple to perform and provide quick results that allow for immediate treatment initiation.

Question 9

How is biotinidase deficiency treated?

Accepted Answer

Biotinidase deficiency is treated with daily oral biotin (vitamin B7) supplementation. The typical dose is 5 to 10 milligrams per day for life, which is much higher than normal dietary intake but safe and well-tolerated. Treatment must begin immediately upon diagnosis and continue throughout life to prevent symptoms and complications. With consistent biotin supplementation started in infancy, children develop completely normally without any symptoms of the disorder. If treatment begins after symptoms appear, biotin supplementation stops progression and may reverse some symptoms like skin rashes and hair loss, but it cannot reverse neurological damage that has already occurred. Regular blood tests monitor biotin levels to ensure the supplement dose is adequate.

Question 10

How can I prevent biotinidase deficiency?

Accepted Answer

You cannot prevent biotinidase deficiency itself because it is an inherited genetic condition, but you can prevent its complications through early detection and treatment. Ensure your newborn receives standard newborn screening, which includes testing for biotinidase deficiency in most states. If you have a family history of the condition or are planning a pregnancy and know you or your partner are carriers, genetic counseling and prenatal testing options are available. For diagnosed individuals, strict adherence to daily biotin supplementation prevents all symptoms and complications. Never stop taking biotin supplements without medical supervision, as symptoms can develop quickly once supplementation is discontinued.

Question 11

What can I do at home for biotinidase deficiency?

Accepted Answer

At home, the most important thing you can do is take your prescribed biotin supplement every single day without missing doses. Set daily reminders on your phone or incorporate it into your routine, such as taking it with breakfast. While dietary biotin from eggs, nuts, seeds, and salmon supports overall health, it cannot replace biotin supplementation because your body cannot process it properly. Keep a symptom journal to track any skin changes, hair loss, or neurological symptoms, and report these to your doctor immediately. Ensure regular follow-up appointments for blood work monitoring. Educate family members, teachers, and caregivers about the condition so they understand the critical importance of daily medication and can recognize warning signs if symptoms develop.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Biotinidase Deficiency Blood Test

What is Biotinidase Deficiency?

What causes biotinidase deficiency?

What is the best test for biotinidase deficiency?

When should I get tested for biotinidase deficiency?

References

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