Newborn screening

• 2,4-Dienoyl-CoA reductase deficiency
• 2-methyl-3-hydroxybutyric aciduria
• 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
• 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

NIH genetic and rare disease info

• NIH info on Newborn screening

Newborn screening is a rare disease.

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