Disorders

The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), part of the US Department of Health and Human Services, recommends that all newborns be screened for 34 core disorders and 26 secondary disorders. These disorders are part of the Recommended Uniform Screening Panel (RUSP), which state newborn screening programs take into careful consideration when deciding which conditions are coded on their own individual panels. The newest disorders added to the RUSP are Critical Congenital Heart Disease (CCHD), Severe Combined Immunodeficiency (SCID), Pompe Disease, X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysacchardisosis Type I (MPS I).

RUSP Disorders

The disorders on the RUSP are classified into the following categories: metabolic disorders, endocrine disorders, hemoglobin disorders and other disorders. Information on all core, secondary and new disorders is available in the interactive table below. Newborn screening ACT sheets and confirmatory algorithms were created by the American College of Medical Genetics and Genomics (ACMG).

Metabolic Disorder:

Organic acid condition
Disorder Time Critical Date Added Available Resources
Beta-Ketothiolase deficiency (BKT)
Yes
01-2005
Glutaric acidemia type I (GA1)
Yes
01-2005
Holocarboxylase synthase deficiency (MCD)
Yes
01-2005
Hydroxy-3-methyglutaric aciduria (HMG)
Yes
01-2005
Isovaleric acidemia (IVA)
Yes
01-2005
Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
No
01-2005
Methylmalonic acidemia (cobalamin disorders)
No
01-2005
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Yes
01-2005
Propionic acidemia (PROP)
Yes
01-2005

Metabolic Disorder:

Fatty acid oxidation disorder
Disorder Time Critical Date Added Available Resources
Carnitine uptake defect/carnitine transport defect (CUD)
No
01-2005
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Yes
01-2005
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Yes
01-2005
Trifunctional protein deficiency (TFP)
Yes
01-2005
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Yes
01-2005

Metabolic Disorder:

Amino acid disorder
Disorder Time Critical Date Added Available Resources
Argininosuccinic aciduria (ASA)
Yes
01-2005
Citrullinemia, type I (CIT)
Yes
01-2005
Classic phenylketonuria (PKU)
No
01-2005
Homocystinuria (HCY)
No
01-2005
Maple syrup urine disease (MSUD)
Yes
01-2005
Tyrosinemia, type I (TYR I)
No
01-2005

Endocrine Disorder

Disorder Time Critical Date Added Available Resources
Congenital adrenal hyperplasia (CAH)
Yes
01-2005
Primary congenital hypothyroidism (CH)
No
01-2005

Other Disorder

Disorder Time Critical Date Added Available Resources
Biotinidase deficiency (BIOT)
No
01-2005
Classic galactosemia (GALT)
Yes
01-2005
Critical congenital heart disease (CCHD)
No
01-2011
Cystic fibrosis (CF)
No
01-2005
Hearing loss
No
01-2005
Severe combined Immunodeficiencies (SCID)
No
01-2010
Spinal Muscual Atrophy (SMA)
No
01-2018
X-linked Adrenoleukodystrophy (X-ALD)
No
01-2016

Hemoglobin Disorder:

Sickle Cell Disorder
Disorder Time Critical Date Added Available Resources
S, Beta-thalassemia
No
01-2005
S,C disease
No
01-2005
S,S disease (Sickle cell anemia)
No
01-2005

Lysosomal Storage Disorder

Disorder Time Critical Date Added Available Resources
Glycogen Storage Disease Type II (Pompe)
No
01-2015
Mucopolysaccharidosis Type 1 (MPS I)
No
01-2016

Metabolic Disorder:

Organic acid condition
Disorder Time Critical Date Added Available Resources
2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
No
01-2005
2-Methylbutyrylglycinuria (2MBG)
No
01-2005
3-Methylglutaconic aciduria (3MGA)
No
01-2005
Isobutyrylglycinuria (IBG)
No
01-2005
Malonic acidemia (MAL)
No
01-2005
Methylmalonic acidemia with homocystinuria (Cbl C,D)
No
01-2005

Metabolic Disorder:

Fatty acid oxidation disorder
Disorder Time Critical Date Added Available Resources
2,4 Dienoyl-CoA reductase deficiency (DE RED)
No
01-2005
Carnitine acylcarnitine translocase deficiency (CACT)
No
01-2005
Carnitine palmitoyltransferase type I deficiency (CPT IA)
No
01-2005
Carnitine palmitoyltransferase type II deficiency (CPT II)
No
01-2005
Glutaric acidemia type II (GA2)
No
01-2005
Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
No
01-2005
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)
No
01-2005
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
No
01-2005

Metabolic Disorder:

Amino acid disorder
Disorder Time Critical Date Added Available Resources
Argininemia (ARG)
No
01-2005
Benign hyperphenylalaninemia (H-PHE)
No
01-2005
Biopterin defect in cofactor biosynthesis (BIOPT-BS)
No
01-2005
Biopterin defect in cofactor regeneration (BIOPT-REG)
No
01-2005
Citrullinemia, type II (CIT II)
No
01-2005
Hypermethioninemia (MET)
No
01-2005
Tyrosinemia, type II (TYR II)
No
01-2005
Tyrosinemia, type III (TYR III)
No
01-2005

Hemoglobin Disorder

Disorder Time Critical Date Added Available Resources
Various other hemoglobinopathies (Var Hb)
No
01-2005

Other Disorder

Disorder Time Critical Date Added Available Resources
Galactoepimerase deficiency (GALE)
No
01-2005
Galactokinase deficiency (GALK)
No
01-2005
T-cell related lymphocyte deficiencies
No
01-2010