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

International Journal of Neonatal Screening

Barry Wolf¹ 

[1] Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA

关键词: biotinidase deficiency;    biotinidase;    newborn screening;    screening;   

DOI  :  10.3390/ijns1010003

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.