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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).

 


 

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