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About Biotinidase Deficiency

What is Biotinidase Deficiency?

Biotinidase deficiency is an inherited disorder caused by a deficiency of the enzyme biotinidase. This enzyme is responsible for recycling biotin, a vitamin that is essential for normal growth and development. Without enough biotin, the body cannot properly use fats, carbohydrates, and proteins. Symptoms of biotinidase deficiency can include skin rash, hair loss, seizures, developmental delays, and vision problems. Treatment typically involves taking biotin supplements and avoiding foods that contain biotinase, an enzyme that breaks down biotin.

What are the symptoms of Biotinidase Deficiency?

The symptoms of Biotinidase Deficiency can vary from person to person, but may include:

-Hair loss

-Skin rash

-Developmental delays
-Hearing loss
-Vision problems
-Liver and kidney problems
-Metabolic acidosis
-Neurological problems

What are the causes of Biotinidase Deficiency?

Biotinidase deficiency is caused by mutations in the BTD gene. This gene provides instructions for making an enzyme called biotinidase, which helps the body process and recycle the vitamin biotin. Mutations in the BTD gene reduce or eliminate the activity of biotinidase, leading to a buildup of biotin in the body and a deficiency of the vitamin.

What are the treatments for Biotinidase Deficiency?

The primary treatment for Biotinidase Deficiency is lifelong supplementation with biotin, a water-soluble vitamin. The recommended dosage is 10-20 mg/day for adults and 5-10 mg/day for children. In addition, regular monitoring of biotinidase activity levels is recommended to ensure that the biotin supplementation is effective. Other treatments may include dietary modifications, such as avoiding raw egg whites, and avoiding certain medications that can interfere with biotin absorption. In some cases, enzyme replacement therapy may be recommended.

What are the risk factors for Biotinidase Deficiency?

1. Family history of Biotinidase Deficiency
2. Premature birth
3. Low birth weight
4. Exposure to certain medications, such as anticonvulsants, during pregnancy
5. Exposure to certain environmental toxins, such as lead or mercury
6. Exposure to certain infections, such as rubella or cytomegalovirus, during pregnancy
7. Genetic mutations that affect the biotinidase enzyme