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TL;DR
The algorithm demonstrated technical feasibility with acceptable positive predictive values and identified attenuated cofactor-responsive disease variants previously thought to be missed by newborn screening.
Nutrients · 14 authors, 3 centres
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The algorithm demonstrated technical feasibility with acceptable positive predictive values and identified attenuated cofactor-responsive disease variants previously thought to be missed by newborn screening.
The algorithm screens for methylmalonic acidurias, propionic acidemia, homocystinurias, remethylation disorders, and neonatal vitamin B12 deficiency using multiple-tier strategies with tandem mass spectrometry. The overall birth prevalence of all diseases included was 1:3305 (95% CI: 1:3297–3314), comparable to the existing national NBS metabolic panel. The algorithm achieved a positive predictive value of approximately 0.3 with low false positive rates. Notably, in 25% of cases the initial suspected diagnosis did not correspond to the confirmed diagnosis. The study identified attenuated cofactor-responsive variants, including a patient with vitamin B6-responsive CBS deficiency and one with vitamin B12-responsive CblA-type methylmalonic aciduria. Limitations include delayed reporting in one case due to IT complications and the requirement for additional parental consent, yielding a 62% participation rate.