Biotinidase deficiency (BIOT)

Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin.

The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Symptoms often include seizures, muscle weakness, breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance, skin rashes, hair loss, and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.