Tandem mass spectrometric analysis of dried blood spots for newborn screening of lysosomal storage disorders

ANYL 266

Sophie Blanchard, sophieb@u.washington.edu1, C. Ronald Scott, crscott@u.washington.edu2, Frantisek Turecek, turecek@chem.washington.edu1, and Michael H. Gelb3. (1) Department of Chemistry, University of Washington, Campus Box 351700, 36 Bagley Hall, Seattle, WA 98195, (2) Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, (3) Department of Chemistry & Biochemistry, University of Washington, Seattle, WA 98195
Tandem mass spectrometry (tandem MS) is a useful diagnostic platform for the early detection of genetic diseases such as lysosomal storage disorders. This technique provides a direct assay of enzyme activity from a biological sample in an extremely sensitive and fast manner. Unlike other analytical tools such as spectrophotometric, fluorometric, or radiometric assays, tandem MS is highly multiplexable, as the products of several enzymes can be assessed simultaneously.

Identification of enzyme deficiencies at birth will enable currently available treatments to be commenced early, before the onset of irreversible symptoms. Previous results have shown that tandem MS analysis of blood samples from newborn infants can provide quantitative measurements of the activities of enzymes responsible for lysosomal storage disorders such as Fabry, Gaucher, or Krabbe. This poster will describe progress toward expanding the use of tandem MS for the newborn screening of lysosomal storage disorders.

 

General Posters
7:00 PM-9:00 PM, Sunday, August 19, 2007 BCEC -- Exhibit Hall - B2, Poster

Sci-Mix
8:00 PM-10:00 PM, Monday, August 20, 2007 BCEC -- Exhibit Hall - B2, Sci-Mix

Division of Analytical Chemistry

The 234th ACS National Meeting, Boston, MA, August 19-23, 2007