Evidence · Systematic review or meta-analysis
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.
Systematic review or meta-analysisJournal of inherited metabolic disease2025Full text
- Inborn errors of metabolism
- Medical
- Metabolic, endocrine and renal
Summary
This study combines a systematic review of 58 articles with an evaluation of 17 years (2007–2023) of Dutch newborn bloodspot screening using C5-OH as a marker for 3-MCCD, HMGCLD and HLCSD. Of 126 referred neonates, 46 were true positives, with no reported missed cases. Marked overlap in C5-OH concentrations between affected and unaffected neonates, and between different inborn errors, limits specificity. The authors call for an improved screening strategy, potentially including additional markers.
Summary written for NICUlearn. Always read the original.
- Licence:
- Open (Creative Commons)
Guidelines are shown for education. Follow your unit's own guidance and senior advice.