Newborn Screening

2,4-Dienoyl-CoA reductase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
21-hydroxylase deficiency
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
Alpha-1 antitrypsin deficiency
Autosomal dominant type B hypercholesterolemia - Not a rare disease
Barth syndrome
Becker muscular dystrophy
Beta ketothiolase deficiency
Biotinidase deficiency
Carbamoyl phosphate synthetase 1 deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine-acylcarnitine translocase deficiency
Citrullinemia type I
Citrullinemia type II
Congenital cytomegalovirus
Congenital human immunodeficiency virus
Congenital hypothyroidism
Congenital toxoplasmosis - Not a rare disease
Cystic fibrosis
Diabetes mellitus type 1 - Not a rare disease
Duchenne muscular dystrophy
Ethylmalonic encephalopathy
Fragile X syndrome
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Glucose-6-phosphate dehydrogenase deficiency
Glutamate formiminotransferase deficiency
Glutaric acidemia type I
Glutaric acidemia type II
Glycine N-methyltransferase deficiency
Gyrate atrophy of choroid and retina
Hemoglobin E disease
Hemoglobin SC disease
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Homocystinuria due to CBS deficiency
HSD10 disease
Hyperlysinemia
Hyperprolinemia
Hyperprolinemia type 2
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Kernicterus
Krabbe disease
L-arginine:glycine amidinotransferase deficiency
LCHAD deficiency
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain 3-ketoacyl-coa thiolase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Methionine adenosyltransferase deficiency
Methylmalonic acidemia
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblD - See Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria, cblA type - See Adenosylcobalamin deficiency
Methylmalonic aciduria, cblB type - See Adenosylcobalamin deficiency
Mild phenylketonuria
Mitochondrial trifunctional protein deficiency
Mucopolysaccharidosis type I
Not otherwise specified 3-MGA-uria type
OPA3 defect
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Phenylketonuria
Primary carnitine deficiency
Propionic acidemia
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle beta thalassemia
Sickle cell anemia
Tetrahydrobiopterin deficiency
Turner syndrome
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
VLCAD deficiency
Wilson disease
X-linked creatine deficiency
X-linked severe combined immunodeficiency