Artikel ; Online: 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.
International journal of neonatal screening
2024 Band 10, Heft 1
Abstract: 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 ... ...
Abstract | 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 interference confirmed in 76/84. Initial C5 carnitine (C5C) did not discriminate between FP and TP with median (range) C5C of 2.9 (2.0-9.6) and 4.0 (1.8->70) µmol/L, respectively, and neither did Precision Newborn Screening via Collaborative Laboratory Integrated Reports (CLIR), which identified only 1/47 FP cases. However, among the TP cases, disease severity showed a correlation with initial C5C in 'asymptomatic' individuals ( |
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Sprache | Englisch |
Erscheinungsdatum | 2024-03-13 |
Erscheinungsland | Switzerland |
Dokumenttyp | Journal Article |
ISSN | 2409-515X |
ISSN (online) | 2409-515X |
DOI | 10.3390/ijns10010024 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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