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FEATURE ARTICLE

Newborn Screening for Metabolic Diseases

The second generation of newborn screening techniques can detect many more diseases, allowing the prevention of brain damage and death

David Millington

Figure 5. As of December 2000, tandem mass spectrometry . . .Click to Enlarge Image

A large number of rare diseases result from the loss of critical enzymes, allowing toxic metabolic by-products to build up in the body. In essence, an afflicted person is poisoned, and the results can be devastating: severe neurological impairment, sometimes death. Yet in many cases, simple changes in the diet can avert all harm. The best time to obtain a diagnosis is before the onset of any symptoms—ideally within a week of birth. All U.S. states and many nations require that all newborns be screened for a spectrum of inherited disease. Until recently, states screened for only a handful of diseases, each requiring a unique test, but refinements in tandem mass spectrometry techniques are now allowing states to screen for more than two dozen diseases with a single test. A growing number of states are using tandem mass spectrometry for efficient newborn screening.


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