Disorders Screened for in North Dakota

North Dakota Newborn Screening Program List of Disorders
July 2016


Amino Acid Disorders

  • (ASA) Argininosuccinic Aciduria *
  • (CIT) Citrullinemia, Type I *
  • (HCY) Homocystinuria *
  • (MSUD) Maple Syrup Urine Disease *
  • (PKU) Classic Phenylketonuria *
  • (TYR-1) Tyrosinemia, Type I *
  • (ARG) Argininemia **
  • (BIOPT-BS) Biopterin Defect in Cofactor Biosynthesis **
  • (CIT-II) Citrullinemia, Type II **
  • (BIOPT REG) Biopterin Defect in Cofactor Regeneration **
  • (H-PHE) Benign Hyperphenylalaninemia **
  • (MET) Hypermethioninemia **
  • (TYR II) Tyrosinemia, Type II **
  • (TYR III) Tyrosinemia, Type III **

 

Organic Acid Conditions

  • (GA-1) Glutaric Acidemia, Type I *
  • (HMG) 3-Hydroxy 3-Methylglutaric Aciduria *
  • (IVA) Isovaleric Acidemia *
  • (3-MCC) 3-Methylcrotonyl-CoA carboxylase Deficiency *
  • (Cbl-A,B) Methylmalonic Acidemia (Cobalamin disorders) *
  • (ßKT) ßeta-Ketothiolase Deficiency *
  • (MUT) Methylmalonic Acidemia (Methylmalonyl-CoA Mutase) *
  • (PROP) Propionic Acidemia *
  • (MCD) Holocarboxylase Synthetase Deficiency *
  • (2M3HBA) 2-Methyl-3-Hydroxybutyric Acidemia **
  • (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 *
  • (LCHAD) Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency *
  • (MCAD) Medium-Chain Acyl-CoA Dehydrogenase Deficiency *
  • (TFP) Trifunctional Protein Deficiency *
  • (VLCAD) Very Long-Chain Acyl-CoA Dehydrogenase Deficiency *
  • (CACT) Carnitine Acylcarnitine Translocase Deficiency **
  • (CPT-IA) Carnitine Palmitoyltransferase Type I Deficiency **
  • (CPT-II) Carnitine Palmitoyltransferase Type II Deficiency **
  • (GA2) Glutaric Acidemia, Type II **
  • (MCAT) Medium-chain Ketoacyl-CoA Thiolase Deficiency **
  • (M/SCHAD) Medium/Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency **


Endocrine Disorders

  • (CH) Primary Congenital Hypothyroidism *
  • (CAH) Congenital Adrenal Hyperplasia *

 

Hemoglobin Disorders

  • (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 Disorders

  • (BIOT) Biotinidase Deficiency *
  • (CF) Cystic Fibrosis *
  • (GALT) Classic Galactosemia *
  • (HEAR) Hearing Loss *
  • (CCHD) Critical Congenital Heart Disease *
  • (SCID) Severe Combined Immunodeficiency *

 

Disorders on the SACHDNC recommended panel that ND does not screen:

  • (MPS I) Mucopolysaccharidosis type I*
  • (GSD II) Glycogen Storage Disease Type II (Pompe) *
  • (X-ALD) X-linked Adrenoleukodystrophy*
  • (DE-RED) 2,4 Dienoyl-CoA Reductase Deficiency **
  • (GALK) Galactokinase Deficiency **
  • (GALE) Galactoepimerase Deficiency **
  • (IBG) Isobutyrylglycinuria **
  • (SCAD) Short-chain acyl-CoA Dehydrogenase **


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


** ACHDNC Recommended Uniform Screening Panel – Secondary Targets – Screening for the Core Panel of disorders may show information about secondary conditions (by-products of mandatory screening)
The possibility of a false negative or a false positive result must always be considered when screening newborns for metabolic disorder.