Novel newborn screening can open door to treating rare but devastatin...( Rare metabolic diseases such as Tay-Sac...)

Rare metabolic diseases such as Tay-Sachs, Fabry and Gaucher syndromes are caused by enzyme deficiencies and typically have crippling, even fatal, consequences starting at very early ages. Now a team of University of Washington scientists has developed a relatively simple screening process to detect enzyme deficiencies in newborns that will allow treatment to begin before too much damage has been done.

"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 2-millimeter section is punched out of the spot, then is rehydrated, the target enzymes are incubated and then measured using tandem mass spectrometry, a means of determining a substance's chemical makeup and quantity. 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 associated with enzyme deficiencies within structures called lysosomes, which break down large molecules in most cells.

In each of the diseases, babies typically are symptom free for the first few months to a year of life and then begin to show signs of the disease. The effects can appear gradually over many years or can accumulate rapidly, with the worst cases causing mental retardation, blindness and finally death by the age of 5 or 6. The diseases begin when a missing link a deficient enzyme in the lysosome's biochemical chain causes waste material to accumulate in the cell.

"It's like the garbage collectors have all gone on strike," Turecek said. "The garbage builds up, the cell struggles and eventually it dies."
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Contact: Vince Stricherz
vinces@u.washington.edu
206-543-2580
University of Washington
28-Mar-2006

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