Newborn Screening

Related topics on Genetics Home Reference:

• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 21-hydroxylase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria
• adenosine deaminase deficiency
• alpha thalassemia
• arginase deficiency
• argininosuccinic aciduria
• beta-ketothiolase deficiency
• beta thalassemia
• biotinidase deficiency
• carbamoyl phosphate synthetase I deficiency
• carnitine-acylcarnitine translocase deficiency
• carnitine palmitoyltransferase I deficiency
• carnitine palmitoyltransferase II deficiency
• citrullinemia
• congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• congenital hypothyroidism
• cystic fibrosis
• ethylmalonic encephalopathy
• galactosemia
• glucose-6-phosphate dehydrogenase deficiency
• glutamate formiminotransferase deficiency
• glutaric acidemia type I
• glutaric acidemia type II
• glutathione synthetase deficiency
• glycine encephalopathy
• histidinemia
• holocarboxylase synthetase deficiency
• homocystinuria
• hyperlysinemia
• hypermethioninemia
• hyperprolinemia
• inherited thyroxine-binding globulin deficiency
• isobutyryl-CoA dehydrogenase deficiency
• isovaleric acidemia
• Krabbe disease
• long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• malonyl-CoA decarboxylase deficiency
• maple syrup urine disease
• medium-chain acyl-CoA dehydrogenase deficiency
• methylmalonic acidemia
• mitochondrial trifunctional protein deficiency
• nonsyndromic deafness
• ornithine transcarbamylase deficiency
• ornithine translocase deficiency
• phenylketonuria
• primary carnitine deficiency
• propionic acidemia
• pyruvate carboxylase deficiency
• short-chain acyl-CoA dehydrogenase deficiency
• sickle cell disease
• succinate-CoA ligase deficiency
• tetrahydrobiopterin deficiency
• tyrosinemia
• very long-chain acyl-CoA dehydrogenase deficiency
• X-linked severe combined immunodeficiency
• ZAP70-related severe combined immunodeficiency

You may also search Genetics Home Reference for "Newborn Screening" for additional information.