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)