rusp-july-2024.pdf
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- Attached to
- Newborn Metabolic Screening (GA WACH)
- Solicitation number
- PANHCA25P0000008900
- Issued by
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Department of the Army Medical Command
About this file
The document is the Recommended Uniform Screening Panel (RUSP) for Core and Secondary Conditions, effective July 2024, which details medical screening conditions categorized across six disorder types: Metabolic Disorder (Organic Acid, Fatty Acid Oxidation, and Amino Acid), Endocrine Disorder, Hemoglobin Disorder, and Other Disorder. The panel includes 29 core conditions and 41 secondary conditions, with specific medical conditions listed under each category, such as Phenylketonuria, Congenital Hypothyroidism, Sickle Cell Anemia, Cystic Fibrosis, and Critical Congenital Heart Disease. The document provides a comprehensive matrix indicating which disorder category each condition belongs to, using an "X" to mark the appropriate classification and "--" to denote non-classification, serving as a standardized reference for newborn screening protocols.
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Recommended Uniform Screening Panel Core Conditions
(As of July 2024)
X: Condition is in this category --: Condition is not in this category
Core Condition
Metabolic Disorder - Organic acid condition
Metabolic Disorder - Fatty acid oxidation disorder
Metabolic Disorder - Amino acid disorder
Endocrine Disorder
Hemoglobin Disorder
Other Disorder
3-Hydroxy-3-Methyglutaric Aciduria X -- -- -- -- --
3-Methylcrotonyl-CoA Carboxylase Deficiency X -- -- -- -- --ß-Ketothiolase Deficiency X -- -- -- -- --
Glutaric Acidemia Type I X -- -- -- -- --
Holocarboxylase Synthase Deficiency X -- -- -- -- --
Isovaleric Acidemia X -- -- -- -- --
Methylmalonic Acidemia (Cobalamin disorders) X -- -- -- -- --
Methylmalonic Acidemia (methylmalonyl-CoA mutase) X -- -- -- -- --
Propionic Acidemia X -- -- -- -- --
Carnitine Uptake Defect/Carnitine Transport Defect -- X -- -- -- --
Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency -- X -- -- -- --
Medium-chain Acyl-CoA Dehydrogenase Deficiency -- X -- -- -- --
Trifunctional Protein Deficiency -- X -- -- -- --
Very Long-chain Acyl-CoA Dehydrogenase Deficiency -- X -- -- -- --
Argininosuccinic Aciduria -- -- X -- -- --
Citrullinemia, Type I -- -- X -- -- --
Classic Phenylketonuria -- -- X -- -- --
Homocystinuria -- -- X -- -- --
Maple Syrup Urine Disease -- -- X -- -- --
Tyrosinemia, Type I -- -- X -- -- --
Congenital adrenal hyperplasia -- -- -- X -- --
Primary Congenital Hypothyroidism -- -- -- X -- --
S, βeta-Thalassemia -- -- -- -- X --
S,C Disease -- -- -- -- X --
S,S Disease (Sickle Cell Anemia) -- -- -- -- X --
Biotinidase Deficiency -- -- -- -- -- X
Classic Galactosemia -- -- -- -- -- X
Core Condition
Metabolic Disorder - Organic acid condition
Metabolic Disorder - Fatty acid
Amino acid disorder
Endocrine Disorder
Hemoglobin Disorder
Other Disorder
Critical Congenital Heart Disease -- -- -- -- -- X
Cystic Fibrosis -- -- -- -- -- X Glycogen Storage Disease Type II (Pompe) -- -- -- -- -- X Guanidinoacetate Methyltransferase Deficiency -- -- -- -- -- X
Hearing Loss -- -- -- -- -- X Infantile Krabbe Disease (low galactocerebrosidase [GALC] and psychosine ≥ 10nM)
X
Mucopolysaccharidosis Type I -- -- -- -- -- X
Mucopolysaccharidosis Type II -- -- -- -- -- X Severe Combined Immunodeficiencies -- -- -- -- -- X
Spinal Muscular Atrophy due to homozygous deletion of exon 7 in
SMN1
-- -- -- -- -- X
X-linked Adrenoleukodystrophy -- -- -- -- -- X
Recommended Uniform Screening Panel1
SECONDARY2 CONDITIONS3
(As of July 2024)
Secondary Condition
Metabolic Disorder - Organic acid condition
Metabolic Disorder - Fatty acid
Amino acid
Endocrine Disorder
Hemoglobin
Other
2-Methyl-3-hydroxybutyric aciduria X -- -- -- -- --
2-Methylbutyrylglycinuria X -- -- -- -- --
3-Methylglutaconic aciduria X -- -- -- -- --
Isobutyrylglycinuria X -- -- -- -- --
Malonic acidemia X -- -- -- -- --
Methylmalonic acidemia with homocystinuria X -- -- -- -- --
2,4 Dienoyl-CoA reductase deficiency -- X -- -- -- --
Carnitine acylcarnitine translocase deficiency -- X -- -- -- --
Carnitine palmitoyltransferase type I deficiency -- X -- -- -- --
Carnitine palmitoyltransferase type II deficiency -- X -- -- -- --
Glutaric acidemia type II -- X -- -- -- --
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
-- X -- -- -- --
Secondary Condition
Metabolic Disorder - Organic acid condition
Metabolic Disorder - Fatty acid
Amino acid
Endocrine
Hemoglobin
Other
Medium-chain ketoacyl-CoA thiolase deficiency -- X -- -- -- --
Short-chain acyl-CoA dehydrogenase deficiency -- X -- -- -- --
Argininemia -- -- X -- -- --
Benign hyperphenylalaninemia -- -- X -- -- --
Biopterin defect in cofactor biosynthesis -- -- X -- -- --
Biopterin defect in cofactor regeneration -- -- X -- -- --
Citrullinemia, type II -- -- X -- -- --
Hypermethioninemia -- -- X -- -- --
Tyrosinemia, type II -- -- X -- -- --
Tyrosinemia, type III -- -- X -- -- --
Various other hemoglobinopathies -- -- -- -- X --
Galactoepimerase deficiency -- -- -- -- -- X
Galactokinase deficiency -- -- -- -- -- X T-cell related lymphocyte deficiencies -- -- -- -- -- X
1. Selection of conditions based upon “Newborn Screening: Towards a Uniform Screening Panel and System.” Genetic Med. 2006; 8(5) Suppl: S12- S252” as authored by the American College of Medical Genetics (ACMG) and commissioned by the Health Resources and Services Administration
(HRSA).
2. Disorders that can be detected in the differential diagnosis of a core disorder.
3. Nomenclature for Conditions based upon “Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels.” Pediatrics. 2006;
117 (5) Suppl: S308-S314.
| Recommended Uniform Screening Panel |
| Core Conditions |
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