Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2058877 | Molecular Genetics and Metabolism Reports | 2014 | 4 Pages |
Abstract
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modified microtiter plate-based enzyme activity assay using dried blood spots and a fluorescent substrate for measuring specific GALNS activity to identify patients with MPS IVA.
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Authors
Anirudh J. Ullal, David S. Millington, Deeksha S. Bali,