Partial Biotinidase Deficiency (Partial BIOT)

 

Partial biotinidase deficiency (Partial BIOT) is an inherited condition in which the body is unable to reuse and recycle the vitamin biotin. Partial BIOT is a milder form of BIOT but can cause serious symptoms including hypotonia, skin rashes, hair loss, developmental delay, and neurologic symptoms. These symptoms may worsen during illness, infection, or times of stress. Children found to have partial BIOT through newborn screening and who begin treatment soon after birth usually remain healthy with normal development.

To learn more about Partial Biotinidase Deficiency, visit Baby's First Test: biotinidase deficiency and U.S. National Library of Medicine: Partial biotinidase deficiency. Visit Board Certified Metabolic Providers for a listing of medical specialists and clinic contact information.