Newborn Screening

84 diseases found in 1 page

2 Diseases

21-hydroxylase deficiency 2,4-Dienoyl-CoA reductase deficiency 2-methyl-3-hydroxybutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency

3 Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

A Diseases

Alpha-1 antitrypsin deficiency Autosomal dominant type B hypercholesterolemia

B Diseases

Barth syndrome Becker muscular dystrophy Beta ketothiolase deficiency Biotinidase deficiency

C Diseases

Carbamoyl phosphate synthetase 1 deficiency Carnitine-acylcarnitine translocase deficiency Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 2 deficiency Citrullinemia type I Citrullinemia type II Congenital cytomegalovirus Congenital human immunodeficiency virus Congenital hypothyroidism Congenital toxoplasmosis Cystic fibrosis

D Diseases

Diabetes mellitus type 1 Duchenne muscular dystrophy

E Diseases

Ethylmalonic encephalopathy

F Diseases

Fragile X syndrome

G Diseases

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

H Diseases

Hemoglobin E disease Hemoglobin SC disease HMG CoA lyase deficiency Holocarboxylase synthetase deficiency Homocystinuria due to CBS deficiency Hyperlysinemia Hyperprolinemia Hyperprolinemia type 2

I Diseases

Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia

K Diseases

Kernicterus Krabbe disease

L Diseases

L-arginine:glycine amidinotransferase deficiency LCHAD deficiency

M Diseases

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

N Diseases

Not otherwise specified 3-MGA-uria type

O Diseases

OPA3 defect Ornithine transcarbamylase deficiency Ornithine translocase deficiency syndrome

P Diseases

Phenylketonuria Primary carnitine deficiency Propionic acidemia

S Diseases

Severe combined immunodeficiency due to complete RAG1/2 deficiency Short-chain acyl-CoA dehydrogenase deficiency Sickle beta thalassemia Sickle cell anemia

T Diseases

Tetrahydrobiopterin deficiency Turner syndrome Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3

V Diseases

VLCAD deficiency

W Diseases

Wilson disease

X Diseases

X-linked creatine deficiency X-linked severe combined immunodeficiency

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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