Skip to main content

Metabolic Disorders

Metabolic disorders occur when the body is not able to break down (metabolize) certain substances in food like fats, proteins, or sugars. These substances can build up in the body and cause serious health problems, which can be prevented with early treatment. 

Newborn Screening BC tests for:

Citrullinemia (CIT) and Argininosuccinic Aciduria (ASA)

Cobalamin Disorders (Cbl A, B) and Methylmalonic Acidemia (MUT)

Homocystinuria (HCY)

Isovaleric Acidemia (IVA)

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Maple Syrup Urine Disease (MSUD)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) 

Tyrosinemia, Type I (TYR1)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

Carnitine Uptake Deficiency (CUD)

Biotinidase Deficiency (BIOT)

SOURCE: Metabolic Disorders ( )
Page printed: . Unofficial document if printed. Please refer to SOURCE for latest information.

Copyright © Perinatal Services BC. All Rights Reserved.

    Copyright © 2024 Provincial Health Services Authority.