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

Partial Biotinidase Deficiency (Partial BIOT)


Partial biotinidase deficiency (Partial BIOT) is an inborn error of metabolism, an inherited condition in which an enzyme, biotinidase, in the body is not working well. The job of this enzyme is to help the body reuse and recycle the vitamin biotin; it allows biotin to be available in a form that is able to be used by the body. Partial biotinidase deficiency is a milder form of biotinidase deficiency. Symptoms that have been reported in some people with partial biotinidase deficiency that were untreated or not taking biotin treatment include low muscle tone (hypotonia), skin problems, hair loss, hearing loss, vision problems, developmental delay, ataxia (problems with muscle control during movement), breathing problems and seizures. Early detection and the early start of biotin treatment have been shown to prevent symptoms.

To learn more about Partial Biotinidase Deficiency, visit Baby's First Test: biotinidase deficiency. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.