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Biotinidase Deficiency

Medical information you need to know as an adult with biotinidase deficiency

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Overview of the Condition:

Biotinidase deficiency is a genetic condition that causes your body to not be able to process and reuse a vitamin called biotin.

Medical Problems for Babies and Children:

  • Symptoms of this condition in babies and children can include seizures, low muscle tone, breathing problems, and developmental delays.
  • If left untreated, the condition can lead to hair loss, hearing and vision loss, skin rashes, and learning delays.
  • If the condition is found and treated early, and treatment is continued throughout a person’s life, many of these problems can be prevented.

Medical Problems for Teens and Young Adults:

  • To avoid developing symptoms and problems, teens and young adults must take biotin ongoing, as prescribed by your metabolic doctor.
  • Some girls and young women may experience hair loss, but this symptom can be fixed with increased doses of biotin as prescribed by your doctor.
  • Adults are at risk for developing symptoms if they do not maintain good levels of biotin in their blood.
  • Some adults may have less-serious forms of this condition and may experience weak muscles or skin rashes during times of stress.

How to Minimize Medical Problems and Complications:

  • Take supplements of biotin as prescribed by a doctor, usually 5 to 10mg per day.
  • Avoid raw eggs.
  • Schedule regular eye-sight and hearing checkups.
  • Keep your immunizations up-to-date.
  • Stay in regular contact with your health care providers and health specialists.

Fertility and Pregnancy:

Most medical experts believe that fertility is not affected in men and women who get ongoing health care and continue to take their biotin supplements.

How To Get Support:


Genetics Home Reference

Biotinidase Deficiency Family Support Group

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Genetics Referrals:

Clinical Services

Genetic Services

What Next?

Now you can fill out the Medical Health Summary, print it, and save it. This will help you keep important medical information in one place.


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