Newborn screening for primary carnitine deficiency can also detect mothers with few symptoms

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Two publications on neonatal screening (NNS) for primary carnitine deficiency, which has recently been added to the panel of diseases screened at birth in France, have highlighted that :

  • Australia was the first country to carry out NNS for this disease, in 1998,
  • Asia is the continent with the highest incidence,
  • the French program’s working groups have proposed the most appropriate diagnostic algorithm for newborn screening,
  • NNS also identifies mothers who are not very symptomatic but who are ill.

 

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France. Lefèvre CR, Labarthe F, Dufour D et al. Int J Neonatal Screen. 2023 Fév.

 

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child. van den Heuvel LM, Kater-Kuipers A, van Dijk T et al. Orphanet J Rare Dis. 2023 Juin.

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