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New Infant Screen Detects Metabolic Disease

Blood-based method catches rare but sometimes deadly disorders

TUESDAY, March 28, 2006 (HealthDay News) -- Scientists have developed a screening technique to detect harmful enzyme deficiencies in newborns.

Enzyme deficiencies in newborns can cause rare metabolic diseases such as Tay-Sachs, Fabry and Gaucher syndromes that can have crippling or deadly consequences.

"All of the damage from these diseases is permanent, so if you can start treatment early, in a few weeks or months, you can begin to minimize the damage," Frantisek Turecek, a University of Washington, Seattle, chemistry professor, said in a prepared statement.

He and his colleagues designed a screening method that uses a spot of blood drawn from a baby's heel and dried on a paper card. After rehydration, target enzymes are incubated and measured using a high-tech method called tandem mass spectrometry that gauges a substance's chemical composition and quantity.

A sample can be screened for about 15 enzyme deficiencies at the same time, and the entire process takes less than two days.

So far, the UW team has found that this screening method is effective at detecting seven diseases -- Krabbe, Pompe, Niemann-Pick, Gaucher, Fabry, Tay-Sachs, and Hurler syndromes. These diseases are all associated with enzyme deficiencies within structures called lysosomes, which break down large molecules in most cells. The enzyme deficiency causes waste material to accumulate in cells.

In the worst cases, these diseases can cause mental retardation, blindness and death by age five or six.

The research was expected to be discussed Tuesday at a meeting of the American Chemical Society in Atlanta.

More information

The March of Dimes Birth Defects Foundation has more about newborn screening tests.

SOURCE: University of Washington, news release, March 28, 2006
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