Disorder Fact Sheets

Newborn Blood Spot Screening Panel

Missouri law mandates newborn blood spot screening for all infants. The goal of the Newborn Blood Spot Screening Program is to identify infants at risk and in need of diagnostic testing for the disorders listed below. Infants with positive newborn screen results for a particular condition are followed up to ensure that confirmatory testing is done. Infants found to be positive are entered into a system of medical care. A normal screening result does NOT rule out the possibility of an underlying metabolic/genetic/endocrine disease.

Missouri's Newborn Blood Spot Screening Panel includes the following disorders:

• Adrenoleukodystrophy
• Biotinidase Deficiency (BIOT)
• Classic Galactosemia (GALT)
• Congenital Adrenal Hyperplasia (CAH)
• Cystic Fibrosis (CF)
• Primary Congenital Hypothyroidism (CH)
• Severe Combined Immunodeficiency (SCID)
• Spinal Muscular Atrophy (SMA)

Amino Acid Disorders

• Argininemia (ARG)
• Argininosuccinic aciduria (ASA)
• Citrullinemia, type I (CIT-I)
• Citrullinemia, type II (CIT-II)
• Biopterin defect in cofactor biosynthesis (BIOPT-BS)
• Biopterin defect in cofactor regeneration (BIOPT-BS)
• Homocystinuria (HCY)
• Hyperphenylalaninemia (H-PHE)
• Hypermethioninemia (MET)
• Maple syrup urine disease (MSUD)
• Phenylketonuria (PKU)
• Tyrosinemia, type I (TYR I)*
• Tyrosinemia, type II (TYR II)
• Tyrosinemia, type III (TYR III)

Fatty Acid Oxidation Disorders

• 2,4-Dienoyl-CoA reductase deficiency (DE RED)
• Carnitine acylcarnitine translocase deficiency (CACT)
• Carnitine palmitoyl transferase type I deficiency (CPT-IA)
• Carnitine palmitoyl transferase type II deficiency (CPT-II)
• Carnitine uptake defect (CUD)*
• Glutaric acidemia type II (GA-2)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
• Medium/Short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)
• Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
• Trifunctional protein deficiency (TFP)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders

• 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
• 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
• 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
• 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-Methylglutaconic aciduria (3MGA)
• Beta-ketothiolase deficiency (BKT)
• Glutaric acidemia type I (GA-I)
• Holocarboxylase synthetase deficiency (MCD)
• Isobutyryl-CoA dehydrogenase deficiency (IBG)
• Isovaleric acidemia (IVA)
• Malonic acidemia (MAL)*
• Methylmalonic acidemia (Cbl A, B)
• Methylmalonic acidemia (Cbl C, D)
• Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency) (MUT)
• Propionic acidemia (PROP)
  

Hemoglobinopathies

• Sickle cell disease (Hb S/S)
• Sickle hemoglobin-C disease (Hb S/C)
• Sickle beta zero thalassemia disease
• Sickle beta plus thalassemia disease
• Sickle hemoglobin-D disease
• Sickle hemoglobin-E disease
• Sickle hemoglobin-O-Arab disease
• Sickle hemoglobin Lepore Boston disease
• Sickle HPFH disorder
• Sickle “Unidentified”
• Hemoglobin-C beta zero thalassemia disease
• Hemoglobin-C beta plus thalassemia disease
• Hemoglobin-E beta zero thalassemia disease
• Hemoglobin-E beta plus thalassemia disease
• Hemoglobin-H disease
• Homozygous beta zero thalassemia disease
• Homozygous-C disease
• Homozygous-E disease
• Double heterozygous beta thalassemia disease

Lysosomal Storage Disorders

• Fabry
• Gaucher
• Hunter
• Hurler
• Krabbe
• Pompe

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