Newborn Screening Disorders

Amino Acid Metabolism Disorders

  • Argininosuccinic Aciduria (ASA)
  • Citrullinemia (CIT)
  • Homocystinuria (HCY)
  • Phenylketonuria (PKU)
  • Maple Syrup Urine Disease (MSUD)
  • Tyrosinemia (TYR)

Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)

Congenital Hypothyroidism (CH)

Cystic Fibrosis (CF)

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)

Classical Galactosemia (GALT)

Hemoglobinopathies

  • Sickle Cell Anemia (Hb SS)
  • Hb S/ß-thalassemia (Hb S/ß Th)
  • Hb S/C disease (Hb S/C)

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)

 Severe Combined Immunodeficiency (SCID)