Newborn Screening
Newborn screening for genetic diseases is mandated by state law. Early detection of many of these conditions is crucial because they can result in mental retardation or death if they are unrecognized. However, large-scale screening requires tests that are inexpensive and rapid. Typical tests measure amino acids, intermediary metabolites, and hemoglobin in heelstick blood spotted onto filter paper to diagnose the following:
- Phenylketonuria
- Galactosemia
- Biotinidase deficiency
- Sickle cell anemia
- Congenital adrenal hyperplasia
- Hypothyroidism
Follow-up of positive screening tests for inborn errors of amino acid, carbohydrate, and lipid metabolism typically involve analysis for specific metabolic intermediates in serum and urine.
Last modified:
1/22/97; Author:
J. Harrison