Profound Biotinidase Deficiency (BIOT)
Profound biotinidase deficiency (BIOT) is an inherited condition in which the body is unable to reuse and recycle the vitamin biotin. The signs and symptoms of BIOT typically appear within the first few months of life, but the age of onset varies. Children with profound BIOT, the more severe form of the condition, often have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, BIOT can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.
This condition is also known as: Profound BIOT, BTD deficiency, late-onset biotin-responsive multiple carboxylase deficiency, late-onset multiple carboxylase deficiency.
To learn more about Profound biotinidase deficiency, visit Baby's First Test: biotinidase deficiency. Visit Board Certified Metabolic Providers for a listing of medical specialists and clinic contact information.