Below are fact sheets discussing conditions that may be detected through newborn screening.
- Carnitine/Acycarnitine Translocase Deficiency (Translocase)
- Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)
- 2,4-Dienoyl-CoA Reductase Deficiency
- 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia-Type II)
- Neonatal Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
- Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
- Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD)
- Trifunctional Protein Deficiency (TFP Deficiency)
- Very Long Chain Acyl-CpA Dehydrogenase Deficiency (VLCAD)
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
- Glutaric Acidemia Type I (GA I)
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia (IVA)
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency
- 3-Methylcrontonyl-CoA Carboxylase Deficiency (3MCC Def)
- 3-Methyglutaconyl-CoA Hydratase Deficiency
- Methylmalonic Acidemias
- Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Def)
- Propionic Acidemia (PA)
- Malonic Aciduria
- Multiple CoA Carboxylase Deficiency
- Argininemia
- Argininosuccinic Aciduria (ASA Lyase Def)/Citrullinemia (ASA Synthase Def)
- Carbamoylphosphate Synthetase Deficiency (CPS Def)
- Homocystinuria (Hypermethioninemia)
- Hyperammonemia, Hyperornithinemia, Homocitrullinemia Syndrome (HHH)
- Hyperornithinemia with Gyral Atrophy
- Maple Syrup Urine Disease (MSUD)
- 5-Oxoprolinuria (Pyroglutamic Aciduria)
- Phenylketonuria (PKU)
- Tyrosinemia
- Fabry Disease (α-galactosidase deficiency)
- Gaucher Disease (Glucocerebrosidase Deficiency)
- Krabbe Disease (Galactocerebrosidase Deficiency)
- Mucopolysaccharidosis Type I (MPS-I) (Hurler Syndrome, Hurler/Scheie Syndrome, Scheie Syndrome)
- Niemann-Pick Disease (Acid Sphingomyelinase Deficiency)
- Pompe Disease (Glycogen Storage Disease II)