Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots
| Autor: | Robert J. Pomponio, Deyanira Corzo, Priya S. Kishnani, Joseph Gerrein, Deeksha Bali, Jian Dai, Joan Keutzer, Alison Skrinar, Mariah Titlow, Helmut Kallwass, Cortney Carr |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Endocrinology Diabetes and Metabolism Late onset Biochemistry Isozyme Substrate Specificity Endocrinology Genetics medicine Humans Fluorometry Glycoside Hydrolase Inhibitors Dried blood Molecular Biology Cells Cultured Acarbose chemistry.chemical_classification Blood Specimen Collection Spots biology Glycogen Storage Disease Type II Chemistry α glucosidase nutritional and metabolic diseases alpha-Glucosidases Fibroblasts Enzyme assay Isoenzymes Enzyme biology.protein Hymecromone medicine.drug |
| Zdroj: | Molecular Genetics and Metabolism. 90:449-452 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2006.12.006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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