NBS List of Conditions & Fact Sheets

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Newborn Timeline

 

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Core Conditions

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Core Conditions

  • Propionic Acidemia (PROP)
  • Methylmalonic Acidemia (Methylmalonyl-CoA Mutase) (MUT)
  • Methylmalonic Acidemia (Cobalamin disorders, Vitamin B12 Disorders) (Cbl A, B)
  • Isovaleric Acidemia (IVA)
  • 3-Methylcrotonyl-CoA carboxylase (3-MCC)
  • 3-Hydroxy 3-Methylglutaric Aciduria (HMG)
  • Holocarboxylase Synthase Deficiency (MCD)
  • βeta-Ketothiolase Deficiency (βKT)
  • Glutaric Acidemia, Type I (GA1)

  • Carnitine Uptake Defect/Carnitine Transport Defect (CUD)
  • Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  • Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Trifunctional Protein Deficiency (TFP)

  • Argininosuccinic Aciduria (ASA)
  • Citrullinemia, Type I or ASA Synthetase Deficiency (CIT)
  • Maple Syrup Urine Disease (MSUD)
  • Homocystinuria (Cystathionine Beta Synthetase) (HCY)
  • Classic Phenylketonuria (PKU)
  • Tyrosinemia, Type I (TYR I)

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

  • S,S Disease (Sickle Cell Anemia) (Hb SS)
  • S, βeta-Thalassemia (HB S/βTh)
  • S,C Disease (Hb S/C)

  • Biotinidase Deficiency (Metabolic Disorder) (BIOT)
  • Critical Congenital Heart Disease (CCHD)
  • Cystic Fibrosis (CF)
  • Classic Galactosemia (GALT)
  • Hearing Loss (HEAR) (Not mandated in ND)
  • Severe Combined Immune Deficiency (SCID)
  • Spinal Muscular Atrophy (SMA)
  • Glycogen Storage Disease Type II (Pompe) (GSD II)
  • Mucopolysaccharidosis Type I (MPS I)

Secondary Conditions

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Secondary Conditions

  • Methylmalonic Acidemia with Homocystinuria (Cbl C, D)
  • Malonic Acidemia (MAL)
  • 2-Methylbutyrylglycinuria (2MBG)
  • 3-Methylglutaconic Aciduria (3MGA)
  • 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA)

  • Medium/short-chain L-3-hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
  • Glutaric Acidemia, Type II (GA2)
  • Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
  • Carnitine Palmitoyltransferase, Type I (CPT IA)
  • Carnitine Palmitoyltransferase, Type II (CPT II)
  • Carnitine Acylcarnitine Translocase Deficiency (CACT)

  • Argininemia (ARG)
  • Citrullinemia, Type II (CIT II)
  • Hypermethioninemia (MET)
  • Benign Hyperphenylalaninemia (H-PHE)
  • Biopterin Defect in Cofactor Biosynthesis (BIOPT BS)
  • Biopterin Defect in Cofactor Regeneration (BIOPT REG)
  • Tyrosinemia, Type II (TYR II)
  • Tyrosinemia, Type III (TYR III)

Various other Hemoglobinopathies (Var Hb)

T-cell related lymphocyte deficiencies

Recommended Uniform Screening Panel Conditions ND Does not Screen For

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Recommended Uniform Screening Panel Conditions ND Does not Screen For

  • Mucopolysaccharidosis Type II (MPS II)
  • X-linked Adrenoleukodystrophy (X-ALD)
  • Guanidinoacetate Methyltransferase Deficiency (GAMT)
  • Krabbe Disease (Low Galactocerebrosidase, GALC)

  • 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
  • Galactoepimerase Deficiency (GALE)
  • Galactokinase Deficiency (GALK)
  • Isobutyrylglycinuria (IBG)
  • Short-chain acyl-CoA Dehydrogenase (SCAD)
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For a complete listing of the conditions on the National Recommended Uniform Screening Panel, visit https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp

The possibility of a false negative or a false positive result must always be considered when screening newborns for disorders, particularly if the infant is symptomatic.

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