Biotinidase Deficiency

Biotinidase Deficiency is an inherited metabolic disorder in which the body is unable to recycle and utilize biotin, a vital vitamin needed for normal body functions. This condition can cause serious health problems in infants and young children if not diagnosed and treated early. Symptoms may include seizures, developmental delay, weak muscle tone, skin and hair abnormalities, and hearing or vision problems. However, Biotinidase Deficiency is highly treatable. A simple and daily dose of biotin supplement can completely prevent symptoms and allow children to develop normally. Early detection through newborn screening and timely treatment are essential to avoid long-term complications such as epilepsy and intellectual disability.