Disorders

RUSP Disorders

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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

DisorderTime CriticalDate AddedAvailable Resources
Beta-Ketothiolase deficiency (BKT)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Glutaric acidemia type I (GA1)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms GA1
Holocarboxylase synthase deficiency (MCD)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
3-Hydroxy-3-methyglutaric aciduria (HMG)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms HMG
Isovaleric acidemia (IVA)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms IVA
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms 3-MCC
Methylmalonic acidemia (cobalamin disorders)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Methylmalonic acidemia (methylmalonyl-CoA mutase)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Propionic acidemia (PROP)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms

Metabolic Disorder: Fatty acid oxidation disorder

DisorderTime CriticalDate AddedAvailable Resources
Carnitine uptake defect/carnitine transport defect (CUD)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms CUD
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms LCHAD
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms MCAD
Trifunctional protein deficiency (TFP)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms

Metabolic Disorder: Amino acid disorder

DisorderTime CriticalDate AddedAvailable Resources
Argininosuccinic aciduria (ASA)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Citrullinemia, type I (CIT)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Argininosuccinic Aciduria/ Citrullinemia
Classic phenylketonuria (PKU)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms PKU
Homocystinuria (HCY)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms HCY
Maple syrup urine disease (MSUD)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms MSUD
Tyrosinemia, type I (TYR I)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms TYR I

Endocrine Disorder

DisorderTime CriticalDate AddedAvailable Resources
Congenital adrenal hyperplasia (CAH)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Congenital Adrenal Hyperplasia
Primary congenital hypothyroidism (CH)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Congenital Hypothyroidism

Hemoglobin Disorder: Hemoglobin Disorder: Sickle Cell Disorder

DisorderTime CriticalDate AddedAvailable Resources
S, Beta-thalassemiaNo07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
S,C diseaseNo07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Sickle Cell and other Hemoglobinopathies
S,S disease (Sickle cell anemia)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms

Lysosomal Storage Disorder

DisorderTime CriticalDate AddedAvailable Resources
Glycogen Storage Disease Type II (Pompe)No03/2015NewSTEPs Pompe Resource Page LSDs
Mucopolysaccharidosis Type 1 (MPS I)No02/2016NewSTEPs MPS I Resource Page LSDs

Other Disorder

DisorderTime CriticalDate AddedAvailable Resources
Biotinidase deficiency (BIOT)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Biotinidase Deficiency
Classic galactosemia (GALT)Yes07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Galactosemia
Critical congenital heart disease (CCHD)No09/2011NewSTEPs CCHD Resource Page
Cystic fibrosis (CF)No07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms Cystic Fibrosis Foundation Cystic Fibrosis
Hearing lossNo07/2005Newborn Screening ACT Sheets and Confirmatory Algorithms
Severe combined Immunodeficiencies (SCID) No02/2010Newborn Screening ACT Sheets and Confirmatory Algorithms Immune Deficiency Foundation NewSTEPs SCID Resource Page SCID
Spinal Muscual Atrophy (SMA)No07/2018
X-linked Adrenoleukodystrophy (X-ALD)No02/2016NewSTEPs X-ALD Resource Page