Profound Biotinidase Deficiency (BIOT) - Diseases and Conditions Identified in Children

Biotinidase Deficiency (BIOT)

Biotinidase deficiency (BIOT) is a rare, inherited metabolic condition. In people with biotinidase deficiency, the biotinidase enzyme does not work well and is unable to recycle the vitamin biotin for the body to use. There are different forms of biotinidase deficiency: profound biotinidase deficiency and partial biotinidase deficiency. Early detection and treatment can help prevent serious health problems from biotinidase deficiency.

Condition-specific information and resources are available in English and Spanish on the Baby's First Test website:

Biotinidase deficiency