NCC Knowledge Nugget Series: Biotinidase Deficiency ACT Sheet-Biotinidase Deficiency Knowledge Nugget

Biotinidase Deficiency Knowledge Nugget

Video Transcription

Video Summary

This video provides information on newborn screening for biotinidase deficiency. Biotinidase deficiency is a genetic disorder that affects the ability to recycle biotin, a B-complex vitamin. It can lead to various symptoms and complications if left untreated. The video explains the actions that primary care providers should take upon receiving a screen positive test result for biotinidase deficiency, including contacting the family, taking a family history, arranging a referral to a specialist, and confirming the diagnosis. It also emphasizes the importance of early treatment and provides resources for further information and support.

Keywords

newborn screening

biotinidase deficiency

genetic disorder

recycle biotin

primary care providers