List of Disorders


Amino Acid Disorders

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

Fatty Acid Disorders

  • Medium chain Acyl-CoA dehydrogenase deficiency (MCAD)
  • Very Long chain Acyl-CoA dehydrogenase deficiency (VLCAD)
  • Long Chain Hydroxy Acyl-CoA dehydrogenase deficiency (LCHAD)
  • Trifunctional protein deficiency (TFP)
  • Carnitine uptake defect (CUD)

Organic Acid Disorders

  • Isovaleric Acidemia (IVA)
  • Glutaric Aciduria Type I (GA-I)
  • 3-hydroxy-3-methylglutaryl CoA lyase deficiency (HMG)
  • Multiple carboxylase deficiency(MCD)
  • Methylmalonic Acidemia/Methylmalonyl-CoA mutase (MUT)
  • Methylmalonic Acidemia/Vitamin B12 Disorders (Cbl A,B)
  • 3-methylcrotonyl-CoA carboxylase deficiency (3MCC)
  • Propionic Acidemia (PROP)
  • Beta ketothiolase deficiency (BKT)

Hemoglobinopathies

  • Sickle Cell Anemia (SCA)
  • Sickle C Disease (HB S/C)
  • Sickle Beta Thalassemia (HB S/Th)

Other Disorders

  • Hypothyroidism (HYPOTH)
  • Biotinidase deficiency (BIO)
  • Congenital Adrenal Hyperplasia (CAH)
  • Transferase Deficient Galactosemia (GALT)
  • Cystic Fibrosis (CF)
  • Hearing (HEAR)