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

31 July 2023

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.