New technique screens newborns for rare disorders

Imagine being able to screen newborn infants for 7 rare enzyme disorders at birth. You might think this would be too expensive, or take too long. Researchers at the University of Washington have shown this type of screening can be done quickly and inexpensively. The test they devised uses a spot of blood drawn from an infant's heel and dried on a paper card, similar to screening tests already being done for phenylketonuria and sickle cell disease. The new test screens for Krabbe, Pompe, Niemann-Pick, Gaucher, Fabry, and Tay-Sachs diseases, and Hurler syndrome (mucopolysaccharidosis I). In these types of enzyme disorders, symptoms do not appear right away, so this screening test would allow early diagnosis and treatment. The research team presented its work at the March 28, 2006, meeting of the American Chemical Society.