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.
(from a Mar. 30, 2006 article in University Week online)
Additional material available on the Biochemistry website.