The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity

Today, all of the states in the United States and many countries screen their newborns for biotinidase deficiency. Biotinidase deficiency meets the major criteria for including a disorder into screening programs. However, rarely do we learn the actual story behind the discovery of a disorder where the underlying etiology was elusive or about the events leading to a disorder’s incorporation into a newborn screening program. This is the story of the role that serendipity played in the story of biotinidase deficiency and the newborn screening of the disorder