Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK

• Main Authors: Rachel S. Carling (Author), Katy Hedgethorne (Author), Anupam Chakrapani (Author), Patricia L. Hall (Author), Nick Flynn (Author), Toby Greenfield (Author), Stuart J. Moat (Author), Joshua Ssali (Author), Lynette Shakespeare (Author), Nazia Taj (Author), Teresa H. Y. Wu (Author), Mark Anderson (Author), Arunabha Ghosh (Author), Hugh Lemonde (Author), Germaine Pierre (Author), Mark Sharrard (Author), Sreevidya Sreekantam (Author), James R. Bonham (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true positive (TP) and 84 FP cases, with pivalate i...