Is biotinidase deficiency life threatening?

With early detection and treatment, a person with biotinidase deficiency can live a completely normal life. If left untreated, the disease can cause life-threatening complications. When the disease is not detected early, patients may experience permanent damage to their hearing, vision, and intellectual ability.

What is Biotin deficiency baby?

Biotinidase deficiency is a genetic disorder that is found in a few babies born each year. When a baby has biotinidase deficiency, he or she cannot use biotin, a vitamin that is found in foods, including breast milk and infant formula. Without biotin, the baby will not grow and develop properly.

Can Biotin deficiency be cured?

Biotinidase deficiency (BTD) deficiency is a treatable, inherited condition. BTD affects the way the body processes a vitamin called biotin (sometimes called vitamin H). Biotin is an important vitamin that helps the body break down protein, fats, and carbohydrates.

What are symptoms of Biotinidase?

Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis.

What happens if you lack biotin?

Biotin deficiency can cause thinning hair and loss of body hair; a rash around the eyes, nose, mouth, and anal area; pinkeye; high levels of acid in the blood and urine; seizures; skin infection; brittle nails; and nervous system disorders.

Does biotin have any side effects?

There are currently no known adverse side effects of biotin when taken as prescribed by a doctor or through normal dietary intake. There are some cases where certain dietary or other habits have caused a deficiency of biotin.

How do you test for biotin deficiency?

If your doctor suspects you’re not getting enough B-7, a blood test can measure the level in your blood. Your doctor may order additional blood and lab tests to check other levels. They can use these numbers to either confirm or rule out a biotin deficiency.

What foods cause biotin deficiency?

Biotin deficiency may occur in persons who consume raw eggs (six per day) over many months. Egg white contains a protein called avidin, which binds to biotin extremely tightly, though not via a covalent linkage. The physiological function of the avidin in egg white is not clear.

What would cause a biotin deficiency?

Biotinidase deficiency (BTD) is the most common cause of biotin deficiency. BTD is a rare inherited disorder where the body is not able to use biotin and leads to biotin deficiency. It is caused by a mutation in the BTD gene.

How long does it take to treat biotin deficiency?

The clinical response to administration of biotin has been dramatic in all well-documented cases of biotin deficiency. Healing of the rash was striking within a few weeks, and growth of healthy hair was generally present by 1 or 2 months.

What are the side effects of biotinidase deficiency?

The more severe form of the disorder is called ‘profound biotinidase deficiency’ and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis.

How is biotinidase deficiency related to the BTD gene?

Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed. Last updated: 8/4/2015

Is there a cure for partial biotinidase deficiency?

Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition.

What happens if biotin deficiency is left untreated?

If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance ( ataxia ), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.