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Saturday, April 1, 2006

Enzyme tests may help detect diseases early

THE ASSOCIATED PRESS

A team of University of Washington scientists has developed a relatively simple screening process to detect enzyme deficiencies in newborns that will allow early treatment of rare metabolic diseases such as Tay-Sachs, Fabry and Gaucher diseases.

"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," said Frantisek Turecek, a UW chemistry professor.

The technique uses a spot of blood drawn from a baby's heel and dried on a paper card. A small section is punched out, rehydrated, incubated and studied.

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