Table 3 Conditions screened
Organic Acid Disorders | |
Cobalamin A & B Defects | |
Isovaleric Acidemia (IVA) | |
Glutaric Acidemia Type 1 (GA1) | |
Methylmalonic Acidemia (MMA) | |
Propionic Acidemia (PA) | |
Fatty Acid Oxidation Disorders | |
Carnitine Uptake Defect (CUD) | |
Fatty Acid Oxidation Disorders, other | |
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) | |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | |
Trifunctional Protein Deficiency (TFP) | |
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD) | |
Amino Acid and Urea Cycle Disorders | |
Phenylketonuria (PKU) | |
Maple Syrup Urine Disease (MSUD) | |
Homocystinuria | |
Citrullinemia / Argininosuccinic aciduria | |
Tyrosinemia Type 1 | |
Amino Acidopathies, other | |
Other Metabolic Diseases | |
Biotinidase Deficiency | |
Galactosemia | |
Endocrine Disorders | |
Congenital Hypothyroidism (CH) | |
Congenital Adrenal Hyperplasia (CAH) | |
Other Genetic Diseases | |
Cystic Fibrosis (CF) | |
Hemoglobinopathies | |
Sickle Cell Disease (Hemoglobin SC) | |
Sickle Cell Disease (Hemoglobin SS) | |
Sickle Cell Disease (Sickle/Beta-Thalassemia) | |
Immune Deficiencies | |
Severe Combined Immune Deficiency (SCID) |