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, Type I (CIT) and Argininosuccinic Aciduria (ASA)

​Glutaric Acidemia, Type I (GA1) 

Homocystinuria (HCY)

Isovaleric Acidemia (IVA)

Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) and Mitochondrial Trifunctional Protein Deficiency (MTP)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) 

Methylmalonyl-CoA Mutase Deficiency (MUT) and Cobalamin Disorders (CblA/B)

Tyrosinemia, Type I (TYR1)

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

Carnitine Uptake Deficiency (CUD)

Biotinidase Deficiency (BIOT)