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Newborn Screening
2,4-Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
21-hydroxylase deficiency
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 methylglutaconic aciduria type V
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
Adult-onset citrullinemia type II
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 1 deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine-acylcarnitine translocase deficiency
Citrullinemia type I
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
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
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
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
2-methyl-3-hydroxybutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
21-hydroxylase deficiency
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 methylglutaconic aciduria type V
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
Adult-onset citrullinemia type II
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 1 deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine-acylcarnitine translocase deficiency
Citrullinemia type I
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
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
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
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
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