Screened Conditions Report

Data represents 53 newborn screening programs, inclusive of all 50 US states, the District of Columbia, Puerto Rico and Guam.

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 53
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD 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
Mucopolysaccharidosis I - MPS I 19 34
Mucopolysaccharidosis II - MPS II 51 2
Pompe 16 37
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 synthase 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 52 1
Cystic fibrosis - CF 53
Hearing loss - HEAR 53
Severe Combined Immunodeficiencies - SCID 53
Spinal Muscular Atrophy - SMA 5 48
X-linked Adrenoleukodystrophy 22 31
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 11 36 6
Benign hyperphenylalaninemia - H-PHE 3 31 19
Biopterin defect in cofactor biosynthesis - BIOPT (BS) 8 17 22 6
Biopterin defect in cofactor regeneration - BIOPT (RG) 8 18 21 6
Citrullinemia, type II - CIT II 2 35 16
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 29 21 3
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 17
Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD 24 25 4
Short-chain acyl-CoA dehydrogenase deficiency - SCAD 13 32 8
Hemoglobin Disorders
S, Beta 0-thalassemia - Hb S/B0Th 29 15 9
Various other hemoglobinopathies - Var Hb 40 13
Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria - 2M3HBA 7 26 20
2-Methylbutyrylglycinuria - 2MBG 6 28 19
3-Methylglutaconic aciduria - 3MGA 3 33 17
Isobutyrylglycinuria - IBG 15 25 13
Malonic acidemia - MAL 12 34 7
Methylmalonic acidemia with homocystinuria - Cbl C,D 2 39 12
Other Disorders
Galactoepimerase deficiency - GALE 26 11 10 6
Galactokinase deficiency - GALK 26 11 10 6
T-cell related lymphocyte deficiencies 30 6 17
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 50 2 1
Ornithine transcarbamylase deficiency - OTC 43 7 3
Prolinemia Type I/ Type II - PRO 52 1
Lysosomal Storage Disorders
Fabry 46 7
Gaucher 47 6
Krabbe Disease 43 10
Niemann Pick 51 2
Organic Acid Disorders
Ethylmalonic encephalopathy - EME 44 5 4
Other Disorders
Congenital Toxoplasmosis - TOXO 50 3
Cytomegalovirus - CMV 51 2
Formiminoglutamic acidemia - FIGLU 48 1 4
Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD 51 2
Guanidinoacetate Methyltransferase - GAMT 50 3
Human Immunodeficiency Virus - HIV Exposure 51 1 1
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH 44 8 1
Pyroglutamic acidemia - 5-OXO 52 1
Zellweger Syndrome 48 5