Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach

• Main Authors: Nathan W. P. Cantley (Author), Robert Barski (Author), Helena Kemp (Author), Sarah L. Hogg (Author), Hoi Yee Teresa Wu (Author), Ann Bowron (Author), Catherine Collingwood (Author), Jennifer Cundick (Author), Claire Hart (Author), Lynette Shakespeare (Author), Mary Anne Preece (Author), Helen Aitkenhead (Author), Sarah Smith (Author), Rachel S. Carling (Author), Stuart J. Moat (Author)
• Format: Book
• Published: MDPI AG, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an "Other disorder suspected" (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased. We aimed to determine the efficacy of CG...