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)