Missouri Newborn Screening Disorders

List of 28 Disorders

Amino Acid Disorders
Argininosuccinic aciduria (ASA)
Citrullinemia (CIT)
Homocystinuria (HCY)
Hypermethioninemia (MET)
Maple Syrup Urine Disease (MSUD)
Phenylketonuria (PKU)
Tyrosinemias (TYR-I, TYR-II)*   
         

Fatty Acid Disorders
Carnitine Uptake Defect (CUD)*         
Carnitine/acylcarnitine translocase deficiency (CACT)
Carnitine palmitoyl transferase deficiency (CPT-II)
3-Hydroxy-hexadecanoyl disorders (LCHAD, TFP)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Multiple acyl-CoA dehydrogenase deficiency (GA-II)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders
Glutaric acidemia, type 1 (GA-I)
Isovaleric acidemia (IVA)
Methylmalonic acidemias (MUT, Cbl A,B)
Propionic acidemia (PROP)
3-Hydroxy-isovaleryl disorders (3MCC, HMG, BKT, MCD)

Hemoglobin Disorders
Hb S/Beta-thalassemia
Hb S/C disease
Hb S/S disease (Sickle Cell Anemia)

Others
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism (CH)
Cystic Fibrosis (CF)
Galactosemia  (GALT)
Hearing deficiency

*There is a lower probability of detection of this disorder during the immediate newborn period.

The Missouri Newborn Screening Laboratory’s goal is to identify infants at risk and in need of diagnostic testing for the above disorders.  A normal screening result does NOT rule out the possibility of an underlying metabolic/genetic disease.