Newborn Screening Unit

Disorders

• Phenylketonuria (PKU)
• Homocystinuria (HCY)
• Maple syrup urine disease (MSUD)
• Tyrosinemia (TYR)
• Citrullinemia (CIT)
• Argininosuccinic acidemia (ASA)

• Isovaleric acidemia (IVA)
• Glutaric acidemia type I (GAI)
• 3-Hydroxy 3-methyl glutaric aciduria (HMG)
• Multiple carboxylase deficiency (MCD)
• Methylmalonic acidemia - mutase deficiency (MUT)
• Methylmalonic acidemia - Cbl A, B
• 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
• Propionic academia (PA)
• ß-Ketothiolase deficiency (BKT)

• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency (LCHAD)
• Trifunctional protein deficiency (TFP)
• Carnitine uptake defect (CUD)

• Congenital hypothyroidism (CH)
• Congenital adrenal hyperplasia (CAH)

• Sickle cell disease (S/S)
• Sickle cell-hemoglobin C disease (S/C)
• Sickle cell-ß-thalassemia (S/beta-thal)