Newborn Screening Disorders
A-Z Listing
0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
0-9
- 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
- 2-Methylbutyrylglycinuria (2MBG)
- 2,4 Dienoyl CoA Reductase Deficiency (DE RED)
- 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency (HMG)*
- 3-Methylcrotonyl CoA Carboxylase Deficiency (3 MCC)*
- 3-Methylglutaconic Aciduria (3MGA)
A
- Adenosine Deaminase Deficiency (ADA SCID)*
- Alpha-Thalasemia (Bart's Hgb)
- Argininemia (ARG)*
- Argininosuccinic Aciduria (ASA)
B
- Beta-Ketothiolase Deficiency (BKT)*
- Beta-Thalassemia (Cooley’s Anemia)
- Biotinidase Deficiency (BIO)*
- Biopterin Defect in Cofactor Biosynthesis (BIOPT (BS))
- Biopterin Defect in Cofactor Regeneration (BIOPT (REG))
C
- Carnitine Palmitoyltransferase I Deficiency(CPT I)
- Carnitine Palmitoyltransferase Type II Deficiency (CPT II)
- Carnitine Acylcarnitine Translocase Deficiency (CACT)*
- Carbamoyl Phosphate Synthetase 1 Deficiency (CPS)
- Carnitine Uptake Deficiency (CUD)*
- Citrullinemia, Type I (CIT I)*
- Citrullinemia, Type II (CIT II)
- Congenital Adrenal Hyperplasia (CAH)*
- Congenital Hypothyroidism (CH)*
- Critical Congenital Heart Disease (CCHD)*
- Cystic Fibrosis (CF)*
D
- Duarte Galactosemia (DG)
E
F
G
- Galactosemia (GALT)*
- Galactokinase Deficiency (GALK)
- Galactoepimerase Deficiency (GALE)
- Glutaric Acidemia, Type I (GA 1)*
- Glutaric Acidemia, Type II (GA 2)
- Glycogen Storage Disease, Type II (Pompe Disease) (GSD)*
- Guanidinoacetate Methyltransferase Deficiency (GAMT)*
H
- Hearing loss (Hearing)*
- Hemoglobin SS Disease (Hgb SS)*
- Hemoglobin S, βeta-thalassemia Disease (Hgb S/BTh)*
- Hemoglobin SC Disease (Hgb SC)*
- Hemoglobin C Trait (Carrier) (Hgb FAC)
- Hemoglobin D Trait (Carrier) (Hgb FAD)
- Hemoglobin E Trait (Carrier) (Hgb FAE)
- Hemoglobin S Trait (Carrier) (Hgb FAS)
- Hemoglobin Variant Trait (Hgb FA Other)
- Beta-Thalassemia Trait (Beta thalassemia minor)
- Alpha-Thalassemia Trait (Alpha thalassemia minor)
- Homocystinuria (HCY)*
- Homocystinuria due to MTHFR Deficiency(HCY due to MTHFR Deficiency)
- Hypermethioninemia (MET)
I
J
K
L
M
- Maple Syrup Urine Disease (MSUD)*
- Malonic Acidemia (MAL)
- Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)*
- Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
- Methylmalonic Acidemia caused by cobalamin A or cobalamin B deficiencies (CBL A,B)*
- Methylmalonic Acidemia due to Transcobalamin receptor defect (TCbl R)
- Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)*
- Methylmalonic Acidemia with Homocystinuria (Cbl C,D,F)
- Multiple CoA Carboxylase Deficiency AKA Holocarboxylase Synthetase Deficiency (MCD)*
- Mucopolysaccharidosis Type I (MPS I)*
- Mucopolysaccharidosis Type II (MPS II)*
N
O
- Ornithine Transcarbamylase Deficiency (OTC)
- Other Hemoglobinopathies (Variant Hemoglobin's)
P
- Phenylketonuria (PKU)*
- Hyperphenylalaninemia (PHE)
- Propionic Acidemia (PPA)*
- Pyruvate Carboxylase Deficiency (PC)
Q
R
S
- Severe Combined Immunodeficiencies (SCID)*
- Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
- Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1 (SMA)*
T
- T-cell Related Lymphocyte Deficiencies
- Tyrosinemia (TYR)*
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III(TYR III)
- Trifunctional Protein Deficiency (TFP)*
U
V
W
X
- X-Linked Adrenoleukodystrophy (X-ALD)*
Y
Z
* The starred disorders are core RUSP conditions or are legislatively mandated. All other conditions listed may be detected when screening for a core condition.
Core conditions are the conditions that newborn screening is specifically designed to identify. A "core condition" is added to the newborn screening panel if
- There is a specific and sensitive test available to detect it.
- The health outcomes of the condition are well understood.
- There is an available and effective treatment.
To learn more about core and secondary conditions, please visit the HRSA Newborn Screening website.