Screening for inborn errors of metabolism

The principal objective of population-based neonatal screening is to identify newborns with an inborn error of metabolism (IEM) at the asymptomatic stage and promptly initiate management to order to improve their prognosis. Tandem mass spectrometry (MS/MS) has made it possible to detect several metabolites from the same blood sample.

In the current context where neonatal screening is being transferred from a urine- to a blood-based platform, the Ministry of Health and Social Services mandated INESSS to evaluate the relevance of offering MS/MS neonatal screening for seven inborn errors of metabolism:

• 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• hyperargininemia (ARG)
• HHH syndrome (HHH)
• citrullinemia type I (CIT-I)
• citrullinemia type II (CIT-II)
• methylmalonique acidemia (MMA)
• propionic acidemia (PA)

Of the seven inborn errors of metabolism evaluated, INESSS recommends blood-based screening for two of them, specifically 1) methylmalonique acidemia (MMA) and 2) propionic acidemia (PA).

Note : You can also consult the publication du 31 juillet 2020 on screening for nine other inborn errors of metabolism.