domingo, 27 de enero de 2019

Newborn Screening | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Newborn Screening | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
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 
Hyperprolinemia type 2 
Isobutyryl-CoA dehydrogenase deficiency 
Isovaleric acidemia 
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 
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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