NBS 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 37 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), Mucopolysacchardisosis Type I (MPS I), Spinal Muscular Atrophy (SMA), Mucopolysacchardisosis Type II (MPS II), Guanidinoacetate Methyltransferase (GAMT) Deficiency and Infantile Krabbe Disease.
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
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Glutaric acidemia type I (GA1) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Holocarboxylase synthetase deficiency (MCD) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Hydroxy-3-methyglutaric aciduria (HMG) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Isovaleric acidemia (IVA) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Methylcrotonyl-CoA carboxylase deficiency (3-MCC) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Methylmalonic acidemia (cobalamin disorders) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Methylmalonic acidemia (methylmalonyl-CoA mutase) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Propionic acidemia (PROP) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Metabolic Disorder:
Fatty acid oxidation disorder| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Carnitine uptake defect/carnitine transport defect (CUD) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Trifunctional protein deficiency (TFP) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Metabolic Disorder:
Amino acid disorder| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Argininosuccinic aciduria (ASA) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Citrullinemia, type I (CIT) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Classic phenylketonuria (PKU) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Homocystinuria (HCY) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Maple syrup urine disease (MSUD) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Tyrosinemia, type I (TYR I) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Endocrine Disorder
| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Congenital adrenal hyperplasia (CAH) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Primary congenital hypothyroidism (CH) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Hemoglobin Disorder:
Sickle Cell Disorder| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| S, Beta-thalassemia |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| S,C disease |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| S,S disease (Sickle cell anemia) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Lysosomal Storage Disorder
| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Glycogen Storage Disease Type II (Pompe) |
Yes
|
03-2015 | NewSTEPs Pompe Resource Page |
| Infantile Krabbe Disease |
Yes
|
02-2024 | NewSTEPs Krabbe Resource Page |
| Mucopolysaccharidosis Type 1 (MPS I) |
No
|
02-2016 | NewSTEPs MPS I Resource Page |
| Mucopolysaccharidosis Type II (MPS II ) |
No
|
08-2022 | NewSTEPs MPS II Resource Page |
Other Disorder
Metabolic Disorder:
Organic acid condition| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| 2-Methyl-3-hydroxybutyric aciduria (2M3HBA) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| 2-Methylbutyrylglycinuria (2MBG) |
No
|
07-2005 | |
| 3-Methylglutaconic aciduria (3MGA) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Isobutyrylglycinuria (IBG) |
No
|
07-2005 | |
| Malonic acidemia (MAL) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Methylmalonic acidemia with homocystinuria (Cbl C,D) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Metabolic Disorder:
Fatty acid oxidation disorder| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| 2,4 Dienoyl-CoA reductase deficiency (DE RED) |
No
|
07-2005 | |
| Carnitine acylcarnitine translocase deficiency (CACT) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Carnitine palmitoyltransferase type I deficiency (CPT IA) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Carnitine palmitoyltransferase type II deficiency (CPT II) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Alogirthms |
| Glutaric acidemia type II (GA2) |
Yes
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) |
No
|
07-2005 | |
| Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Short-chain acyl-CoA dehydrogenase deficiency (SCAD) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Metabolic Disorder:
Amino acid disorder| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Argininemia (ARG) |
No
|
07-2005 | Newborn Screening ACT Sheet and Confirmatory Algorithms |
| Benign hyperphenylalaninemia (H-PHE) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Biopterin defect in cofactor biosynthesis (BIOPT-BS) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Biopterin defect in cofactor regeneration (BIOPT-REG) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Citrullinemia, type II (CIT II) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Hypermethioninemia (MET) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Tyrosinemia, type II (TYR II) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Tyrosinemia, type III (TYR III) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Hemoglobin Disorder
| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Various other hemoglobinopathies (Var Hb) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
Other Disorder
| Disorder | Time Critical | Date Added | Available Resources |
|---|---|---|---|
| Galactoepimerase deficiency (GALE) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| Galactokinase deficiency (GALK) |
No
|
07-2005 | Newborn Screening ACT Sheets and Confirmatory Algorithms |
| T-cell related lymphocyte deficiencies |
No
|
02-2010 | Newborn Screening ACT Sheets and Confirmatory Algorithms , Immune Deficiency Foundation |