NGF News

Infant rare-disease screening developed

March 28, 2006

ATLANTA, March 28 (UPI) -- University of Washington scientists say they have developed a screening process to detect enzyme deficiencies in newborns.

The researchers say the screening allows early detection and treatment of rare metabolic diseases such as Tay-Sachs, Fabry and Gaucher syndromes that typically have crippling, even fatal, consequences starting at very early ages.

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 and lead author of the study.

The technique uses a spot of blood drawn from a baby's heel and dried on a paper card. The sample can be screened for perhaps 15 enzyme deficiencies at the same time, and the entire process typically will take less than two days, Turecek said.

So far the screening method has been effective in detecting seven diseases -- Krabbe, Pompe, Niemann-Pick, Gaucher, Fabry, Tay-Sachs and Hurler syndromes -- all associated with enzyme deficiencies.

Turecek discussed his team's work Tuesday, during the American Chemical Society's national meeting in Atlanta.