Newborn metabolic screening

Overview

Alberta’s Newborn Metabolic Screening (NMS) Program screens for 21 treatable conditions (15 metabolic conditions, 2 endocrine conditions, cystic fibrosis, sickle cell disease, and severe combined immunodeficiency).

The NMS Program is done through newborn blood spot screening to help find conditions that can be treated early. Early treatment can help prevent health problems, improve a baby's health and may even save a baby's life.

The NMS Program is provided by Alberta Health Services.

• Newborn Metabolic Screen Program general information
• Newborn Metabolic Screen Program resources for health professionals

Conditions screened

Metabolic Conditions

• Biotinidase deficiency (BIOT)
• Carnitine uptake defect (CUD)
• Citrullinemia (CIT)
• Glutaric acidemia type 1 (GA1)
• Classic galactosemia (GALT)
• 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
• Isovaleric acidemia (IVA)
• Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
• Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
• Methylmalonic acidemia (MMA)
• Maple syrup urine disease (MSUD)
• Propionic acidemia (PA)
• Phenylketonuria (PKU)
• Tri-functional protein (TFP) deficiency
• Tyrosinemia Type 1 (TYR1)
• Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency

Endocrine Conditions

• Congenital adrenal hyperplasia (CAH)
• Congenital hypothyroidism (CH)

Cystic Fibrosis (CF)

Sickle Cell Disease (SCD)

Severe Combined Immunodeficiency (SCID)