General Disorders

• Argininemia (ARG)
• Biotinidase Deficiency (BIO)
• Congenital Adrenal Hyperplasia (CAH)
• Cystic Fibrosis (CF)
• Galactosemia (GAL)
• Hemoglobinopathies (HGB)
• Hypothyroidism (TSH)
• Severe Combined Immunodeficiency Disorder (SCID)
• T-cell Lymphopenia

Amino Acid Disorders

• Argininosuccinic Aciduria (ASA Lyase Deficiency)
• Carbamoylphosphate Synthetase Deficiency (CPS Deficiency)
• Citrullinemia (ASA Synthetase Deficiency)
• Homocystinuria (HCys)
• Hyperammoninemia, Hyperornithinemia, Homocitrullinemia Syndrome (HHH)
• Hypermethioninemia (MGT)
• Maple Syrup Urine Disease (MSUD)
• 5-Oxoprolinuria (Pyroglutamic aciduria)
• Phenylketonuria (PKU)
• Tyrosinemia Type I (TYR I)
• Tyrosinemia Type II (TYR II)

Organic Acid Disorders

• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
• Glutaric Aciduria Type I (GA I)
• Isobutyryl-CoA Dehydrogenase Deficiency
• Isovaleric Acidemia (IVA)
• Malonic Aciduria
• 2-Methylbutyryl-CoA Dehydrogenase Deficiency
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
• 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGH)
• Methylmalonic Acidemia (MMA)
• Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
• Propionic Acidemia (PPA)
• Multiple CoA Carboxylase Deficiency (MCCD)

Fatty Acid Oxidation Disorders

• Carnitine/Acylcarnitine Translocase Deficiency (Translocase)
• Carnitine Palmitoyltransferase I Deficiency (CPT I)
• Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA II)
• Carnitine Palmitoyltransferase II Deficiency (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-CoA Dehydrogenase Deficiency (VLCAD)