Newborn Screening Disorders

  • Amino Acid Metabolism Disorders:
    • Argininosuccinic Aciduria (ASA)
    • Citrullinemia (CIT)
    • Homocystinuria (HCY)
    • Phenylketonuria (PKU)
    • Maple Syrup Urine Disease (MSUD)
    • Tyrosinemia (TYR)
  • Organic Acidemia Disorders:
    • ß-Ketothiolase deficiency (BKT)
    • Glutaric Acidemia type I (GA I)
    • 3-OH 3-CH3 Glutaric Aciduria (HMG)
    • Isovaleric Acidemia (IVA)
    • Methylmalonic Acidemia -Cbl A, B (Cbl A, B)
    • Methylmalonic Acidemia mutase deficiency (MUT)
    • 3-Methylcrotonyl-CoA carboxylase Deficiency (3MCC)
    • Multiple carboxylase Deficiency (MCD)
    • Propionic Acidemia (PA)
  • Lysosomal Storage Disorders:
    • Mucopolysaccharidosis Type 1 (MPS 1)
    • Glycogen Storage Disease Type II (Pompe)
  • Biotinidase Deficiency
  • Congenital Adrenal Hyperplasia (CAH)
  • Congenital Hypothyroidism (CH)
  • Cystic Fibrosis (CF)
  • Classical Galactosemia (GALT)
  • Severe Combined Immunodeficiency (SCID)
  • Spinal Muscular Atrophy (SMA)
  • Fatty Acid Oxidation Disorders:
    • Carnitine Uptake Deficiency (CUD)
    • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
    • Long-chain L-3-OH acyl-CoA Dehydrogenase Deficiency (LCHAD)
    • Very Long-Chain acyl-CoA Dehydrogenase Deficiency (VLCAD)
    • Trifunctional Protein Deficiency (TFP)
  • Hemoglobinopathies:
    • Sickle Cell Anemia (Hb SS)
    • Hb S/ß-thalassemia (Hb S/ß Th)
    • Hb S/C disease (Hb S/C)