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)


Glutaric Aciduria Type 1 (GA1) 


Homocystinuria (HCY)


Isovaleric Acidemia (IVA)


Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) and Trifunctional Protein Deficiency (TFP)


Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) 


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


Tyrosinemia Type I (TYR1)


Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)


Carnitine Uptake Deficiency (CUD)


Biotinidase Deficiency (BIOT)