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 53 1
Citrullinemia, type I - CIT 54
Classic phenylketonuria - PKU 54
Homocystinuria - HCY 54
Maple syrup urine disease - MSUD 54
Tyrosinemia, type I - TYR I 54
Endocrine Disorders
Congenital adrenal hyperplasia - CAH 1 53
Congenital hypothyroidism - CH 1 53
Fatty Acid Disorders
Carnitine uptake defect/carnitine transport defect - CUD 54
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD 54
Medium-chain acyl-CoA dehydrogenase deficiency - MCAD 54
Trifunctional protein deficiency - TFP 53 1
Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD 54
Hemoglobin Disorders
S, Beta + thalassemia - Hb S/B+ Th 54
S,C disease - Hb S/C 54
S,S disease (Sickle cell anemia) - Hb SS 54
Lysosomal Storage Disorders
Infantile Krabbe Disease 41 13
Mucopolysaccharidosis I - MPS I 9 45
Mucopolysaccharidosis II - MPS II 40 14
Pompe 6 48
Organic Acid Disorders
3-Hydroxy-3-methyglutaric aciduria - HMG 54
3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC 52 2
Beta-Ketothiolase deficiency - BKT 1 53
Glutaric acidemia type I - GA1 54
Holocarboxylase synthetase deficiency - MCD 1 52 1
Isovaleric acidemia - IVA 54
Methylmalonic acidemia (cobalamin disorders) - Cbl A,B 54
Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT 54
Propionic acidemia - PROP 1 53
Other Disorders
Biotinidase deficiency - BIOT 54
Classic galactosemia - GALT 1 53
Critical congenital heart disease - CCHD 52 1
Cystic fibrosis - CF 54
Guanidinoacetate Methyltransferase - GAMT 40 14
Hearing loss - HEAR 53
Severe Combined Immunodeficiencies - SCID 1 53
Spinal Muscular Atrophy - SMA 3 51
X-linked Adrenoleukodystrophy 6 48
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 10 38 6
Benign hyperphenylalaninemia - H-PHE 3 31 20
Biopterin defect in cofactor biosynthesis - BIOPT (BS) 9 17 22 6
Biopterin defect in cofactor regeneration - BIOPT (RG) 9 18 21 6
Citrullinemia, type II - CIT II 2 36 16
Hypermethioninemia - MET 3 34 17
Tyrosinemia, type II - TYR II 2 37 15
Tyrosinemia, type III - TYR III 3 31 20
Fatty Acid Disorders
2,4 Dienoyl-CoA reductase deficiency - DE RED 28 22 4
Carnitine acylcarnitine translocase deficiency - CACT 4 43 7
Carnitine palmitoyltransferase type I deficiency - CPT IA 9 31 14
Carnitine palmitoyltransferase type II deficiency - CPT II 4 43 7
Glutaric acidemia type II - GA2 4 35 15
Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT 19 17 18
Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD 23 26 5
Short-chain acyl-CoA dehydrogenase deficiency - SCAD 13 33 8
Hemoglobin Disorders
S, Beta 0-thalassemia - Hb S/B0Th 26 16 12
Various other hemoglobinopathies - Var Hb 40 14
Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria - 2M3HBA 8 26 20
2-Methylbutyrylglycinuria - 2MBG 7 29 18
3-Methylglutaconic aciduria - 3MGA 3 34 17
Isobutyrylglycinuria - IBG 15 26 13
Malonic acidemia - MAL 12 36 6
Methylmalonic acidemia with homocystinuria - Cbl C,D 2 40 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 41 10 3
Hyperornithinemia with Gyrate Deficiency - Hyper ORN 47 6 1
Nonketotic Hyperglycinemia - NKH 51 1 2
Ornithine transcarbamylase deficiency - OTC 41 7 6
Prolinemia Type I/ Type II - PRO 53 1
Lysosomal Storage Disorders
Fabry 46 8
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 50 1 3
Duchenne Muscular Dystrophy - DMD 54 2
Formiminoglutamic acidemia - FIGLU 50 1 3
Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD 51 3
Human Immunodeficiency Virus - HIV Exposure 52 1 1
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH 44 9 1
Pyroglutamic acidemia - 5-OXO 53 1
Zellweger Syndrome 46 8