Neonatal screening for nine inborn errors of metabolism

The main goal of neonatal screening for inborn errors of metabolism is to identify affected newborns before the onset of symptoms and to manage them quickly to improve their prognoses. MSSS has mandated INESSS to evaluate the relevance of adding blood screening for the following nine inborn errors of metabolism (IEM) to the Québec Neonatal Blood Screening Program:

• homocystinuria (HCY);
• β-ketothiolase deficiency (βKT);
• galactosemia (GALT);
• isovaleric acidemia (IVA);
• biotinidase deficiency (BIOT);
• cellular carnitine uptake deficiency (CUD);
• maple syrup urine disease (MSUD);
• 3-hydroxy-3-methylglutaric aciduria (HMG);
• holocarboxylase synthetase (HCS) deficiency.

INESSS recommends adding neonatal screening for homocystinuria (HCY) and cellular carnitine uptake deficiency (CUD) to the Québec Neonatal Screening Program. However, INESSS does not recommend adding the seven other neonatal screens to the testing platform.

Note : You can also consult the publication of september 16, 2019 : Screening for seven inborn errors of metabolism.