Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

Conclusion The majority of mothers and a significant proportion of newborns with PCD identified through NBS are likely to remain asymptomatic without early treatment. Conversely, a small proportion of newborns with predicted severe PCD could greatly benefit from early treatment. Genetic variants and carnitine transport activity can be used to distinguish between these groups.

http://jmg.bmj.com/cgi/content/short/60/12/1177?rss=1

Source: Journal of Medical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G., Lan Tags: Open access Screening Source Type: research

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