Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
Publication
, Journal Article
Kallwass, H; Carr, C; Gerrein, J; Titlow, M; Pomponio, R; Bali, D; Dai, J; Kishnani, P; Skrinar, A; Corzo, D; Keutzer, J
Published in: Mol Genet Metab
April 2007
The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to eliminate isoenzyme interference. Here we demonstrate that this method efficiently detects late-onset Pompe patients who are frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types.
Duke Scholars
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Published In
Mol Genet Metab
DOI
ISSN
1096-7192
Publication Date
April 2007
Volume
90
Issue
4
Start / End Page
449 / 452
Location
United States
Related Subject Headings
- alpha-Glucosidases
- Substrate Specificity
- Isoenzymes
- Hymecromone
- Humans
- Glycoside Hydrolase Inhibitors
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Fluorometry
- Fibroblasts
Citation
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Kallwass, H., Carr, C., Gerrein, J., Titlow, M., Pomponio, R., Bali, D., … Keutzer, J. (2007). Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab, 90(4), 449–452. https://doi.org/10.1016/j.ymgme.2006.12.006
Kallwass, Helmut, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, et al. “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.” Mol Genet Metab 90, no. 4 (April 2007): 449–52. https://doi.org/10.1016/j.ymgme.2006.12.006.
Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab. 2007 Apr;90(4):449–52.
Kallwass, Helmut, et al. “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.” Mol Genet Metab, vol. 90, no. 4, Apr. 2007, pp. 449–52. Pubmed, doi:10.1016/j.ymgme.2006.12.006.
Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab. 2007 Apr;90(4):449–452.
Published In
Mol Genet Metab
DOI
ISSN
1096-7192
Publication Date
April 2007
Volume
90
Issue
4
Start / End Page
449 / 452
Location
United States
Related Subject Headings
- alpha-Glucosidases
- Substrate Specificity
- Isoenzymes
- Hymecromone
- Humans
- Glycoside Hydrolase Inhibitors
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Fluorometry
- Fibroblasts