The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

• Main Authors: Stella Knöpfli (Author), Bernadette Goeschl (Author), Maximilian Zeyda (Author), Anna Baghdasaryan (Author), Margot Baumgartner-Kaut (Author), Matthias R. Baumgartner (Author), Marion Herle (Author), Julian Margreitter (Author), Martin Poms (Author), Saskia B. Wortmann (Author), Vassiliki Konstantopoulou (Author), Martina Huemer (Author)
• Format: Book
• Published: MDPI AG, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in...