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.

As of January 1, 2017, Missouri's Newborn Blood Spot Screening Panel includes the following disorders:

Biotinidase Deficiency (BIOT)
Classical Galactosemia (GALT)
Congenital Adrenal Hyperplasia (CAH)
Congenital Primary Hypothyroidism (CH)
Cystic Fibrosis (CF)
Severe Combined Immunodeficiency (SCID)**


Amino Acid Disorders

Argininemia
Argininosuccinic Acidemia (ASA, argininosuccinase)
Citrullinemia Type I (CIT-I, argininosuccinate synthetase)
Citrullinemia Type II (CIT-II, citrin deficiency)
Defects of Biopterin Cofactor Biosynthesis (BIOT-BS)
Defects of Biopterin Cofactor Regeneration (BIOT-RG)
Homocystinuria (HCY, cystathionine beta synthase)
Hyperphenylalaninemia (H-PHE)
Hypermethioninemia (MET)
Maple Syrup Urine Disease (MSUD, branched-chain ketoacid dehydrogenase)
Phenylketonuria (PKU, phenylalanine hydroxlase)
Tyrosinemia Type I (TYR-I, fumarylacetoacetate hydrolase)*
Tyrosinemia Type II (TYR-II, tyrosine aminotransferase)
Tyrosinemia Type III (TYR-III, hydroxphenylpyruvate dioxygenase)


Fatty Acid Oxidation Disorders

Carnitine Acylcarnitine Translocase Deficiency (CACT)
Carnitine Uptake Defect (CUD, carnitine transport defect)
Carnitine Palmitoyl Transferase Deficiency I (CPT-Ia)
Carnitine Palmitoyl Transferase Deficiency II (CPT-II)
Dienoyl-CoA Reductase Deficiency (DE-RED)
Glutaric Acidemia Type II (GA-II, multiple acyl-CoA dehydrogenase deficiency)
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCKAT)
Medium/Short Chain L-3-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-Methylglutaric-CoA Lyase Deficiency (HMG, 3-Hydrox-3-methylglutaryl-CoA Lyase)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
3-Methylglutaconic Aciduria (3MGA, Type I hydratase deficiency)
Beta Ketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacylthiolase)
Glutaric Acidemia Type I (GA-I, glutaryl-CoA dehydrogenase)
Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
Isovaleric Acidemia (IVA, Isovaleryl-CoA Dehydrogenase)
Malonic Acidemia (MAL, malonyl-CoA dehydrogenase)
Methylmalonic Acidemia (CBL A, B; vitamin B12 disorders)
Methylmalonic Acidemia (CBL C, D)
Methylmalonic Acidemia (MUT, methylmalonyl Co-A mutase)
Multiple Carboxylase Deficiency (MCD, holocarboxylase synthetase)
Propionic Acidemia (PROP, propionyl-CoA carboxylase)


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 Hereditary Persistence of Fetal Hemoglobin Disease (S/HPFH) Disease
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
Hurler
Krabbe**
Pompe

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

** Currently conducting statewide pilot/implementation testing.