title: Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
abstract: Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay for Pompe disease in 2006 after the FDA approved GAA enzyme replacement therapy in April of that year. The purpose of this study was to examine the experience of our clinical laboratory in using this assay. Over a 2-year period, we received samples for the DBS GAA assay from 891 patients referred for possible Pompe disease, of whom 111 (12.5%) patients across the disease spectrum who had results in the affected range. The majority of the patients were referred by neurologists and geneticists. When available, we correlated the results obtained through DBS GAA activity assay with the results from a second DBS, or a second tissue (cultured skin fibroblasts or muscle biopsy). In our experience, the DBS GAA activity assay provides a robust, rapid, and reliable first tier test for screening patients suspected of having Pompe disease.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Biochemical Genetics Laboratory, Duke University Medical Center, 801 Capitola Drive, Suite 6, Durham, North Carolina 27713, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Goldstein
authors.forename: Sarah P
authors.initials: SP
authors.lastname: Young
authors.forename: Mohita
authors.initials: M
authors.lastname: Changela
authors.forename: Gwen H
authors.initials: GH
authors.lastname: Dickerson
authors.forename: Haoyue
authors.initials: H
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Dai
authors.forename: Denise
authors.initials: D
authors.lastname: Peterson
authors.forename: David S
authors.initials: DS
authors.lastname: Millington
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Deeksha S
authors.initials: DS
authors.lastname: Bali
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques; D005347:Fibroblasts / Q000473:pathology; D005470:Fluorometry; D006009:Glycogen Storage Disease Type II / Q000097:blood* / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D015203:Reproducibility of Results; D012189:Retrospective Studies; D055815:Young Adult; D000520:alpha-Glucosidases / Q000097:blood*
chemical_list: D000520:alpha-Glucosidases