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

• Ethylmalonic Encephalopathy (EME)

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

• Isobutyryl-CoA dehydrogenase deficiency (IBG)
• Isovaleric Acidemia (IVA)*

J

K

L 

•  Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)*

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

• Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)*

W

X

• X-Linked Adrenoleukodystrophy (X-ALD)*

Y

Z

• Zellweger Spectrum Disorder (ZSD)

 

 

* 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

1. There is a specific and sensitive test available to detect it.
2. The health outcomes of the condition are well understood.
3. There is an available and effective treatment.

To learn more about core and secondary conditions, please visit the HRSA Newborn Screening website.