biotiniriippuvuiksi

Biotiniriippuvuiksi, also known as biotinidase deficiency, is a rare genetic disorder that affects how the body uses biotin, a B vitamin. Biotin is essential for various metabolic processes, including the breakdown of fats, carbohydrates, and proteins. In individuals with biotinidase deficiency, the enzyme responsible for releasing biotin from proteins and other compounds in the body is not functioning correctly. This leads to a buildup of toxic substances and a deficiency of free biotin.

The symptoms of biotinidase deficiency can vary widely in severity and typically appear within the first few months of life. Common signs include developmental delays, seizures, skin rashes, hair loss, and problems with coordination. If left untreated, the condition can lead to serious neurological damage and even death.

Diagnosis is usually made through newborn screening programs, which test for low levels of biotinidase activity in blood. Treatment involves lifelong supplementation with high doses of biotin. This oral supplement helps to bypass the deficient enzyme and provide the body with the biotin it needs to function properly. With early diagnosis and consistent treatment, individuals with biotinidase deficiency can lead healthy and normal lives. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the faulty gene, one from each parent, to be affected.