List of Disorders
AMINO ACIDEMIAS AND UREA CYCLE DISORDERS
- (ASA) Argininosuccinic aciduria*
- (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency*
- (HCY) Homocystinuria (cystathionine beta synthetase)*
- (MSUD) Maple Syrup Urine Disease*
- (PKU) Classic Phenylketonuria*
- (TYR-1) Tyrosinemia, type I*
- (ARG) Argininemia**
- (BIOPT-BS) Defects of biopterin cofactor biosynthesis**
- (CIT-II) Citrullinemia, type II**
- (BIOPT-REG) Defects of biopterin cofactor regeneration**
- (H-PHE) Benign hyperphenylalaninemia**
- (MET) Hypermethioninemia**
- (TYR II) Tyrosinemia, type II**
- (TYR III) Tyrosinemia, type III**
ORGANIC ACIDEMIAS
- (GA-1) Glutaric acidemia type I*
- (HMG) 3-Hydroxy 3-methylglutaric aciduria *
- (IVA) Isovaleric acidemia*
- (3-MCC) 3-Methylcrotonyl-CoA carboxylase*
- (Cbl-A,B) Methylmalonic acidemia (cobalamin disorders, vitamin B12 disorders)*
- (βKT) βeta-Ketothiolase*
- (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)*
- (PROP) Propionic acidemia*
- (MCD) Holocarboxylase synthase*
- (2M3HBA) 2-Methyl-3-hydroxybutyric aciduria**
- (2MBG) 2-Methylbutyrylglycinuria**
- (3MGA) 3-Methylglutaconic aciduria**
- (Cbl-C, D) Methylmalonic acidemia with homocystinuria**
- (MAL) Malonic acidemia**
FATTY ACID OXIDATION DISORDERS
- (CUD) Carnitine uptake defect (Carnitine transport defect)*
- (LCHAD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase*
- (MCAD) Medium chain acyl-CoA dehydrogenase*
- (TFP) Trifunctional protein deficiency*
- (VLCAD) Very long-chain acyl-CoA dehydrogenase*
- (CACT) Carnitine acylcarnitine translocase**
- (CPT-Ia) Carnitine palmitoyltransferase type I**
- (CPT-II) Carnitine palmitoyltransferase type II**
- (GA2) Glutaric acidemia type II**
- (MCAT) Medium-chain ketoacyl-CoA thiolase**
- (M/SCHAD) Medium/Short chain L-3-hydroxyacyl-CoA dehydrogenase**
ENDOCRINE
- (CAH) Congenital adrenal hyperplasia *
- (CH) Primary Congenital hypothyroidism *
HEMOGLOBINOPATHIES
- (Hb SS) S,S Disease (Sickle Cell Anemia)*
- (Hb S/C) S,C Disease*
- (HB S/βTh) S, βeta-thalassemia*
- (Var Hb) Variant hemoglobinopathies **
OTHER
- (BIOT) Biotinidase deficiency *
- (CF) Cystic Fibrosis *
- (GALT) Classic Galactosemia *
- (SCID) Severe Combined Immunodeficiency *
Disorders on the ACHDNC recommended panel that we do not screen:
- (MPS I) Mucopolysaccharidosis type I *
- (GSD II) Glycogen Storage Disease Type II (Pompe) *
- (X-ALD) X-linked Adrenoleukodystrophy *
- (DE-RED) 2,4 Dienoyl-CoA reductase deficiency **
- (GALK) Galactokinase deficiency **
- (GALE) Galactose Epimerase deficiency **
- (IBG) Isobutyrylglycinuria **
- (SCAD) Short-chain acyl-CoA dehydrogenase**
* Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommended Uniform Screening Panel - Core Panel
** ACHDNC Recommended Uniform Screening Panel - Secondary Targets - Screening for the Core Panel of disorders may show information about secondary conditions (by-products of mandatory screening)
