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WEBSITE OF THE STATE OF SOUTH DAKOTA DEPARTMENT OF HEALTH
Kim Malsam-Rysdon, Secretary of Health

South DAkota newborn screening program list of disorders

Disorders screened at the South Dakota designated newborn screening laboratory, the State Hygienic Laboratory at the University of Iowa, using the dried blood spot specimen.

AMINO ACIDEMIAS AND UREA CYCLE DISORDERS

  • (ASA) Argininosuccinic aciduria*
  • (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency*
  • (HCY) Homocystinuria (cystathoinine beta synthetase)*
  • (MSUD) Maple Syrup Urine Disease*
  • (PKU) Classic Phenylketonuria*
  • (TYR-1) Tyrosinemia, type I*
  • (ARG) Argininemia**
  • (BIOPT-BS) Defects of biopterin cofactor biosynthesis**
  • (CIT-II) Citrullinemia, type II**
  • (BIOPT-REG) Defects of biopterin cofactor regeneration**
  • (H-PHE) Benign hyperphenylalaninemia**
  • (MET) Hypermothioninemia**
  • (TYR II) Tyrosinemia, type II**
  • TYR III) Tyrosinemia, type III**

ORGANIC ACIDEMIAS

  • (GA-1) Glutaric acidemia type I*
  • (HMG) 3-Hydroxy 3-methylglutaric aciduria*
  • (IVA) Isovaleric acidemia*
  • (3-MCC) 3-Methylcrotonyl-CoA carboxylase*
  • (Cbl-A,B) Methylmalonic acidemia (cobalamin disorders, vitamin B12 disorders)*
  • (ßKT) ßeta-Ketothiolase*
  • (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)*
  • (PROP) Propionic acidemia*
  • (MCD) Holocarboxylase synthetase*
  • (2M3HBA) 2-Methyl-3-hydroxybutyric aciduria**
  • (2MBG) 2-Methylbutyrylglycinuria**
  • (3MGA) 3-Methylglutaconic aciduria**
  • (Cbl-C, D) Methylmalonic acidemia with homocystinuria**
  • (MAL) Malonic acidemia**

FATTY ACID OXIDATION DISORDERS

  • (CUD) Carnitine uptake defect (Carnitine transport defect)*
  • (LCHAD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase*
  • (MCAD) Medium chain acyl-CoA dehydrogenase*
  • (TFP) Trifunctional protein deficiency*
  • (VLCAD) Very long-chain acyl-CoA dehydrogenase*
  • (CACT) Carnitine acylcarnitine translocase**
  • (CPT-Ia) Carnitine palmoitoyltransferase type I**
  • (CPT-II) Carnitine palmitoyltransferase type II**
  • (GA2) Glutaric acidemia type II**
  • (MCKAT) Medium-chain ketoacyl-CoA thiolase**
  • (M/SCHAD) Medium/Short chain L-3-hydroxyacyl-CoA dehydrogenase**

ENDOCRINE

  • (CAH) Congenital adrenal hyperplasia*
  • (CH) Primary Congenital hypothyroidism*

HEMOGLOBINOPATHIES

  • (Hb SS) S, S Disease (Sickle Cell Anemia)*
  • (Hb S/C) S, C Disease*
  • HB S/ßTH) S, ßeta-thalassemia*
  • (Var Hb) Variant hemoglobinopathies**

OTHER

  • (BIOT) Biotinidase deficiency*
  • (CF) Cystic Fibrosis*
  • (SCID) Severe Combined Immunodeficiency*
  • (GALT) Classic Galactosemia*

*Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommended Uniform Screening Panel (RUSP) - Core Panel

**RUSP - Secondary Targets - Screening for the Core Panel of disorders may show information about secondary conditions (by-products of mandatory screening)

Disorders on the recommended panel that currently are not screened:

  • (MPS I) Mucopolysaccharidosis type I*
  • (GSD II) Glycogen Storage Disease Type II (Pompe)*
  • (X-ALD) X-linked Adrenoleukodystrophy*
  • (SMA) Spinal Muscular Atrophy*
  • (DE-RED) 2, 4 Dienoyl-CoA reductase deficiency**
  • (GALK) Galactokinase deficiency**
  • (GALE) Galactokinase Epimerase deficiency**
  • (IBG) Isobutyrylglycinuria**
  • (SCAD) Short-chain acyl-CoA dehydrogenase**

 

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