Biotiiniriippuvaisuutta

Biotiiniriippuvuus, also known as vitamin B7 deficiency or vitamin H deficiency, is a rare condition characterized by the body's inability to properly utilize biotin. Biotin is a water-soluble vitamin essential for various metabolic processes, including the breakdown of carbohydrates, fats, and proteins. It also plays a role in the health of hair, skin, and nails.

In most cases, biotiiniriippuvuus is caused by a genetic disorder that affects the enzyme biotinidase, which is responsible for recycling biotin in the body. Without this enzyme, biotin is not effectively reabsorbed and is lost through excretion. This leads to a deficiency, even if biotin intake is adequate. Other less common causes can include prolonged consumption of raw eggs, which contain avidin, a protein that binds to biotin and prevents its absorption, or certain medical conditions that impair nutrient absorption.

Symptoms of biotiiniriippuvuus can vary in severity and may include hair loss, a red scaly rash around the eyes, nose, mouth, and genital area, neurological problems such as depression, lethargy, and hallucinations, as well as brittle nails and a sore tongue. In infants, the deficiency can lead to developmental delays and seizures.

Diagnosis is typically made through blood tests that measure biotin levels and the activity of the biotinidase enzyme. Treatment involves lifelong supplementation with high doses of biotin. Early diagnosis and treatment are crucial to prevent or reverse the symptoms and ensure healthy development. Newborn screening programs in many countries include testing for biotinidase deficiency to enable prompt intervention.