Medical information you need to know as an adult with biotinidase deficiency
Overview of the Condition:
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:
- Get education support from teachers and specialists at your school.
- Join a support group with people who have biotinidase deficiency. http://biotinidasedeficiency.20m.com/
Genetics Home Reference
Biotinidase Deficiency Family Support Group
Transition Toolkit – New England Consortium of Metabolic Programs
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