Newborn Metabolic Screening

Resources and information for health professionals about newborn metabolic screening.


Disorders screened by the Alberta Newborn Metabolic Screening Program

  • Biotinidase deficiency (BIOT)
  • Carnitine Uptake Defect (CUD)
  • Citrullinemia (CIT)
  • Congenital Adrenal Hyperplasia (CAH)
  • Congenital Hypothyroidism (CH)
  • Cystic Fibrosis (CF)
  • Glutaryl-CoA Dehydrogenase deficiency
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMG) deficiency
  • Isovaleric Acidemia (IVA)
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency
  • Maple Syrup Urine Disease (MSUD)
  • Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency
  • Methylmalonic Acidemia (MMA)
  • Phenylketonuria (PKU)
  • Propionic Acidemia (PA)
  • Tri-functional Protein (TFP) deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase (VLAD) deficiency

Alberta’s Newborn Metabolic Screening (NMS) Program is delivered by Alberta Health Services (AHS).