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

Profound Biotinidase Deficiency (BIOT)


Profound biotinidase deficiency (BIOT) is an inborn error of metabolism, an inherited condition in which an enzyme, biotinidase, in the body is either missing or 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. When the biotinidase enzyme is not working properly, signs and symptoms of profound biotinidase deficiency typically appear within the first few months of life, but the age of symptom onset varies. If left untreated, profound biotinidase deficiency, the more severe form of the condition, can include symptoms such as seizures, low muscle tone (hypotonia), ataxia (problems with muscle control during movement), developmental delay, hearing loss, eye problems, breathing problems, infections, skin problems, hair loss or other potential signs and symptoms. If left untreated, biotinidase deficiency can be a life-threatening condition. Symptoms such as hearing loss, vision problems and developmental delays that can sometimes be seen in people with untreated profound biotinidase deficiency may not be reversible, even with later biotin treatment. However, early detection and the early start of biotin treatment have been shown to prevent symptoms.

To learn more about Profound 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