Screened Conditions Report
Data represents 56 newborn screening programs, inclusive of all 50 US states, the District of Columbia, Puerto Rico, Guam, American Samoa, Commonwealth of the Northern Mariana Islands and US Virgin Islands.
| Condition | Not Screened | Universally Screened | Likely to be detected and reported due to universal screening of another disorder | Offered to select populations |
|---|---|---|---|---|
| Amino Acid Disorders | ||||
| Argininosuccinic aciduria - ASA | 52 | 1 | ||
| Citrullinemia, type I - CIT | 53 | |||
| Classic phenylketonuria - PKU | 53 | |||
| Homocystinuria - HCY | 53 | |||
| Maple syrup urine disease - MSUD | 53 | |||
| Tyrosinemia, type I - TYR I | 53 | |||
| Endocrine Disorders | ||||
| Congenital adrenal hyperplasia - CAH | 53 | |||
| Congenital hypothyroidism - CH | 53 | |||
| Fatty Acid Disorders | ||||
| Carnitine uptake defect/carnitine transport defect - CUD | 1 | 53 | ||
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD | 1 | 53 | ||
| Medium-chain acyl-CoA dehydrogenase deficiency - MCAD | 53 | |||
| Trifunctional protein deficiency - TFP | 52 | 1 | ||
| Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD | 53 | |||
| Hemoglobin Disorders | ||||
| S, Beta + thalassemia - Hb S/B+ Th | 53 | |||
| S,C disease - Hb S/C | 53 | |||
| S,S disease (Sickle cell anemia) - Hb SS | 53 | |||
| Lysosomal Storage Disorders | ||||
| Infantile Krabbe Disease | 32 | 22 | ||
| Metachromatic Leukodystrophy - MLD | 53 | 3 | ||
| Mucopolysaccharidosis I - MPS I | 5 | 48 | ||
| Mucopolysaccharidosis II - MPS II | 29 | 24 | ||
| Pompe | 3 | 50 | ||
| Organic Acid Disorders | ||||
| 3-Hydroxy-3-methyglutaric aciduria - HMG | 53 | |||
| 3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC | 51 | 2 | ||
| Beta-Ketothiolase deficiency - BKT | 53 | |||
| Glutaric acidemia type I - GA1 | 53 | |||
| Holocarboxylase synthetase deficiency - MCD | 52 | 1 | ||
| Isovaleric acidemia - IVA | 53 | |||
| Methylmalonic acidemia (cobalamin disorders) - Cbl A,B | 53 | |||
| Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT | 53 | |||
| Propionic acidemia - PROP | 53 | |||
| Other Disorders | ||||
| Biotinidase deficiency - BIOT | 53 | |||
| Classic galactosemia - GALT | 53 | |||
| Critical congenital heart disease - CCHD | 53 | 1 | ||
| Cystic fibrosis - CF | 53 | |||
| Duchenne Muscular Dystrophy - DMD | 53 | 3 | ||
| Guanidinoacetate Methyltransferase - GAMT | 32 | 22 | ||
| Hearing loss - HEAR | 54 | |||
| Severe Combined Immunodeficiencies - SCID | 1 | 53 | ||
| Spinal Muscular Atrophy - SMA | 3 | 51 | ||
| X-linked Adrenoleukodystrophy | 4 | 50 |
| Condition | Not Screened | Universally Screened | Likely to be detected and reported due to universal screening of another disorder | Offered to select populations |
|---|---|---|---|---|
| Amino Acid Disorders | ||||
| Argininemia - ARG | 9 | 38 | 6 | |
| Benign hyperphenylalaninemia - H-PHE | 3 | 31 | 19 | |
| Biopterin defect in cofactor biosynthesis - BIOPT (BS) | 9 | 16 | 23 | 6 |
| Biopterin defect in cofactor regeneration - BIOPT (RG) | 9 | 17 | 22 | 6 |
| Citrullinemia, type II - CIT II | 2 | 34 | 17 | |
| Hypermethioninemia - MET | 3 | 33 | 17 | |
| Tyrosinemia, type II - TYR II | 2 | 36 | 15 | |
| Tyrosinemia, type III - TYR III | 3 | 30 | 20 | |
| Fatty Acid Disorders | ||||
| 2,4 Dienoyl-CoA reductase deficiency - DE RED | 28 | 21 | 4 | |
| Carnitine acylcarnitine translocase deficiency - CACT | 4 | 42 | 7 | |
| Carnitine palmitoyltransferase type I deficiency - CPT IA | 9 | 30 | 14 | |
| Carnitine palmitoyltransferase type II deficiency - CPT II | 4 | 42 | 7 | |
| Glutaric acidemia type II - GA2 | 3 | 35 | 15 | |
| Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT | 19 | 17 | 18 | |
| Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD | 23 | 25 | 5 | |
| Short-chain acyl-CoA dehydrogenase deficiency - SCAD | 13 | 32 | 8 | |
| Hemoglobin Disorders | ||||
| S, Beta 0-thalassemia - Hb S/B0Th | 26 | 16 | 11 | |
| Various other hemoglobinopathies - Var Hb | 40 | 13 | ||
| Organic Acid Disorders | ||||
| 2-Methyl-3-hydroxybutyric aciduria - 2M3HBA | 8 | 26 | 20 | |
| 2-Methylbutyrylglycinuria - 2MBG | 7 | 28 | 18 | |
| 3-Methylglutaconic aciduria - 3MGA | 3 | 33 | 17 | |
| Isobutyrylglycinuria - IBG | 15 | 25 | 13 | |
| Malonic acidemia - MAL | 12 | 35 | 6 | |
| Methylmalonic acidemia with homocystinuria - Cbl C,D | 2 | 39 | 12 | |
| Other Disorders | ||||
| Galactoepimerase deficiency - GALE | 28 | 11 | 10 | 5 |
| Galactokinase deficiency - GALK | 28 | 11 | 10 | 5 |
| T-cell related lymphocyte deficiencies | 29 | 7 | 18 |
| Condition | Not Screened | Universally Screened | Likely to be detected and reported due to universal screening of another disorder | Offered to select populations |
|---|---|---|---|---|
| Amino Acid Disorders | ||||
| Carbamoyl phosphate synthetase I deficiency - CPS | 42 | 9 | 2 | |
| Hyperornithinemia with Gyrate Deficiency - Hyper ORN | 47 | 5 | 1 | |
| Nonketotic Hyperglycinemia - NKH | 52 | 2 | ||
| Ornithine transcarbamylase deficiency - OTC | 40 | 8 | 6 | |
| Prolinemia Type I/ Type II - PRO | 53 | 1 | ||
| Lysosomal Storage Disorders | ||||
| Fabry | 45 | 9 | ||
| Gaucher | 48 | 6 | ||
| Niemann Pick | 52 | 2 | ||
| Organic Acid Disorders | ||||
| Ethylmalonic encephalopathy - EME | 45 | 5 | 4 | |
| Other Disorders | ||||
| Congenital Toxoplasmosis - TOXO | 51 | 3 | ||
| Cytomegalovirus - CMV | 47 | 1 | 6 | |
| Formiminoglutamic acidemia - FIGLU | 50 | 1 | 3 | |
| Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD | 52 | 1 | ||
| Human Immunodeficiency Virus - HIV Exposure | 52 | 1 | 1 | |
| Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH | 44 | 8 | 1 | |
| Pyroglutamic acidemia - 5-OXO | 52 | 1 | ||
| Zellweger Syndrome | 44 | 10 |