National newborn screening by laboratory diagnostics is extended to seven more diseases in France

On November 17, 2022, the Ministry of Health and Prevention published the Order in the Official Journal of the French Republic on the extension of the national newborn screening by laboratory diagnostics to seven more diseases (inborn errors of metabolism): leucinosis, homocystinuria, tyrosinemia type 1, glutaric aciduria type 1, isovaleric aciduria, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, and primary carnitine deficiency.

These inborn errors of metabolism will be screened by tandem mass spectrometry according to the requirements and conditions described in the Order. Screening for these diseases will be carried out from January 1, 2023.

See the details in French here.

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