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.


Newborn Screening Facts

As a public health program, the goal of newborn screening is early identification of children at increased risk for selected metabolic or generic
diseases so that medical management can be promptly initiated to avert metabolic crises and prevent irreversible neurological and developmental
sequelae. Early identification of these conditions is crucial, as timely intervention may lead to a significant reduction of morbidity, mortality ad
associated disabilities in affected infants.

 

Hemoglobinopathies Associated with Hb/S allele

Name: Sickle Cell Anemia

Abbreviation: Hb SS

Incidence: >1 in 5,000; 1 in 400 African American

Description Without Treatment: Inherited anemia that can cause pain, damage to vital organs, stroke and sometimes death.

With Treatment: Beginning in infancy; vigilant medical care, all regular childhood vaccinations and begin treatment with penicillin to reduce the risk of infections, such as pneumonia and meningitis. Treatment may include intermittent pain medications and blood infusions depending on symptoms.

 

Name: HB S/Beta- Thalessemia 3

Abbreviation:Hb S/BTH

Incidence: >1 in 50,000

Description Without Treatment: A form of sickle cell anemia, the child inherits one sickle cell gene and beta thalessemia gene, another inherited anemia. Symptoms are often milder than Hb SS, but severity varies.

With Treatment: Routine treatment with penicillin may not be universally recommended.

 

Name: HB S/C Disease

Abbreviation: Hb S/C

Incidence: >1 in 25,000

Description Without Treatment: Another form of sickle cell anemia, the child inherits one sick cell gene and one gene from another hemoglobin variant called HbC. This form is often milder than Hb SS

With Treatment: Routine treatment with penicillin may not be universally recommended.


 

Amino Acidurias

Name: Phenylketonuria

Abbreviation: PKU

Incidence: >1 in 25,000

Description Without Treatment: Individuals cannot process phenylalanine, which can accumulate and cause severe mental retardation if not detected and treated soon after birth.

With Treatment: Adherence to a low-phenylaline diet, at least throughout childhood and adolescence, for females during pregnancy.

 

Name: Maple Syrup Urine Disease

Abbreviation: MSUD

Incidence: <1 in 100,000

Description Without Treatment: MSUD has a wide spectrum of presentations, from mild to severe, although it can be lethal if untreated.

With Treatment: A special, low-protein diet, sometimes supplemented by thiamin, continued indefinitely.