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.

 

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: 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