Disorders included in Colorado newborn blood spot screening

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Amino acid disorders

• Arginase deficiency.
• Argininosuccinic acidemia.
• Citrullinemia.
• Homocystinuria.
• Hypermethioninemia.
• Maple syrup urine disease.
• Phenylketonuria (PKU).
• Tyrosinemias.

Endocrine disorders

• Congenital adrenal hyperplasia.
• Congenital hypothyroidism.

Fatty acid oxidation disorders

• Carnitine acylcarnitine translocase deficiency.
• Carnitine palmitoyltransferase II deficiency.
• Carnitine palmitoyltransferase deficiency 1a.
• Carnitine uptake defect.
• Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
• Medium-chain acyl-CoA dehydrogenase deficiency.
• Short-chain acyl-CoA dehydrogenase deficiency.
• Trifunctional protein deficiency.
• Very long-chain acyl-CoA dehydrogenase deficiency.

Hemoglobinopathies

• Beta-thalassemia major.
• Sickle cell anemia.
• Hemoglobin SC disease

Organic acid disorders

• 3-Hydroxy-3-Methylglutaryl-CoA Lyase deficiency.
• 3-Methylcrotonyl-CoA carboxylase deficiency.
• 3-Methyglutaconic aciduria (3-MGA).
• Beta-ketothiolase deficiency.
• Biotinidase deficiency.
• Glutaric acidemia type I.
• Glutaric acidemia type II.
• Isovaleric acidemia.
• Malonic acidemia.
• Methylmalonic acidemias.
• Multiple carboxylase deficiency.
• Propionic acidemia.

Other disorders

• Cystic fibrosis.
• Galactosemia.
• Severe combined immunodeficiency (SCID).