Newborn screening
From WikiMD's Food, Medicine & Wellness Encyclopedia
- 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[edit source]
Newborn screening is a rare disease.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD