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)