Condition
Pediatric Biotinidase Deficiency
This inherited disorder is characterized by a deficiency of the biotinidase enzyme. This enzyme is important in metabolizing biotin, a B vitamin. It affects 1 in 60,000 to 75,000 babies in the U.S. and is most common in the people of European descent. Lack of the enzyme can lead to severe acid build up in a child's blood, organs and body systems.
Meet the Providers Who Treat Biotinidase Deficiency
Departments that Treat Biotinidase Deficiency
Rare Disease Institute - Genetics and Metabolism
Children's National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.