Newborn Metabolic Screenings in PA, NJ and DE
There are no mandatory newborn screenings on a national level. Instead, each state determines if newborn metabolic screenings must be performed, for which diseases, and how many diseases will be screened.
In Pennsylvania, New Jersey or Delaware, babies who receive abnormal results from these early metabolic screening tests can be referred to the Newborn Metabolic Screening Program at Children's Hospital of Philadelphia (CHOP).
The following is a list of metabolic disorders, the type of disorder, and which states locally require mandatory newborn screening for that disorder.
| Condition | Type of disorder | Pennsylvania | New Jersey | Delaware |
|---|---|---|---|---|
| Adrenoleukodystrophy (ALD) | other | yes | no | no |
| Argininemia (arginase deficiency) | amino acid | no | yes | yes |
| Argininosuccinic aciduria | amino acid | yes | yes | yes |
| Benign hyperphenylalaninemia (H-PHE) | amino acid | no | yes | yes |
| Beta-ketothiolase deficiency | organic acid | yes | yes | yes |
| Biopterin defect in cofactor biosynthesis | amino acid | no | yes | no |
| Biopterin defect in cofactor regeneration | amino acid | no | yes | yes |
| Biotinidase deficiency | other | yes | yes | yes |
| Carnitine acylcarnitine translocase deficiency (CACT) | fatty acid oxidation | no | yes | yes |
| Carnitine palmitoyltransferase I deficiency (CPT1A) | fatty acid oxidation | no | yes | no |
| Carnitine palmitoyltransferase II deficiency | fatty acid oxidation | no | yes | yes |
| Carnitine uptake defect (CUD) | fatty acid oxidation | yes | yes | yes |
| Citrullinemia type I (CTLN1) | amino acid | yes | yes | yes |
| Citrullinemia type II (CIT II) | amino acid | no | yes | yes |
| Classic galactosemia (type 1 galactosemia) | other | yes | yes | yes |
| Classical phenylketonuria (PKU) | amino acid | yes | yes | yes |
| Congenital adrenal hyperplasia (CAH) | endocrine | yes | yes | yes |
| Critical Congenital Heart Disease (CCHD) | other | yes | yes | yes |
| Cystic fibrosis (CF) | other | yes | yes | yes |
| Fabry disease | lysosomal storage | yes | no | no |
| Galacto epimerase deficiency (GALE) | other | no | yes | yes |
| Galactokinase deficiency (Galactosemia type 2 or GALK) | other | no | yes | yes |
| Gaucher disease | lysosomal storage | yes | no | no |
| Glucose-6-phosphate dehydrogenase deficiency (G6PD) | hemoglobin | yes | no | no |
| Glutaric acidemia type I | organic acid | yes | yes | yes |
| Glutaric acidemia type II | fatty acid oxidation | no | yes | no |
| Hearing loss | other | yes | yes | yes |
| Hemoglobinopathies | hemoglobin | yes | yes | yes |
| Holocarboxylase synthetase deficiency (Multiple carboxylase deficiency) | organic acid | yes | yes | yes |
| Homocystinuria (HCY) | amino acid | yes | yes | yes |
| Hypermethioninemia | amino acid | no | yes | yes |
| Isobutyrylglycinuria (IBG) | organic acid | no | yes | yes |
| Isovaleric Acidemia (IVA) | organic acid | yes | yes | yes |
| Krabbe disease (aka Globoid cell leukodystrophy) | lysosomal storage | yes | no | no |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) | fatty acid oxidation | yes | yes | yes |
| Malonic acidemia (MAL) | organic acid | no | yes | no |
| Maple syrup urine disease (MSUD) | amino acid | yes | yes | yes |
| Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) | fatty acid oxidation | yes | yes | yes |
| Medium-chain ketoacyl CoA thiolase deficiency (MCAT) | fatty acid oxidation | no | yes | yes |
| Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) | fatty acid oxidation | no | yes | no |
| Methylmalonic acidemia (Cobalamin disorders) | organic acid | yes | yes | yes |
| Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) | organic acid | yes | yes | yes |
| Methylmalonic acidemia with homocystinuria | organic acid | no | yes | yes |
| Mucopolysaccharidosis type I (MPS I) | lysosomal storage | yes | no | no |
| Niemann-Pick disease | lysosomal storage | yes | no | no |
| Pompe disease (aka Glycogen storage disease type II) | lysosomal storage | yes | no | no |
| Primary congenital hypothyroidism (CH) | endocrine | yes | yes | yes |
| Propionic acidemia | organic acid | yes | yes | yes |
| Severe combined immunodeficiency (SCID) | other | yes | yes | yes |
| Short-chain acyl-CoA dehydrogenase deficiency | fatty acid oxidation | no | yes | yes |
| Sickle beta thalassemia | hemoglobin | yes | yes | yes |
| Sickle cell anemia | hemoglobin | yes | yes | yes |
| Sickle cell disease | hemoglobin | yes | yes | yes |
| T-cell related lymphocyte deficiencies | other | no | yes | no |
| Trifunctional Protein Deficiency (TFP) | fatty acid oxidation | yes | yes | yes |
| Tyrosinemia type I (hepatorenal tyrosinemia) | amino acid | yes | yes | yes |
| Tyrosinemia type II (TYR II) | amino acid | no | yes | yes |
| Tyrosinemia type III (TYR III) | amino acid | no | yes | yes |
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) | fatty acid oxidation | yes | yes | yes |
| 2.4 dienoyl-CoA reductase deficiency | endocrine | no | yes | no |
| 2-methyl-3-hydroxybutyric Aciduria | organic acid | no | yes | yes |
| 2-Methylbutyryl glycinuria | organic acid | no | yes | yes |
| 3-hydroxy-3-methylglutaric aciduria | organic acid | yes | yes | yes |
| 3-methylcrotonyl-CoA carboxylase deficiency | organic acid | yes | yes | yes |
| 3-Methylglutaconic Aciduria | organic acid | no | yes | yes |
Updated: June 2018
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