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Description:This enzyme assay measures the activity of the enzyme sialdase or neuraminidase. Deficiency of the enzyme results in the clinical disease, sialidosis. Sialidosis type I is a storage disease in which sialic acid containing peptides and glycolipids are stored in lysosomes. The assay uses the synthetic substrate, 4-methylumbelliferyl-D-N-Acetylneuraminic Acid, and activity is determined by measuring fluorometrically the release of 4-methyl-umbelliferone. Specimen Requirements:The assay is performed on cultured skin fibroblasts only. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. Normal Range:Skin Fibroblasts: 95-653 pmoles/min/mg protein Turnaround Time:Skin fibroblasts assays are growth dependent. CPT Codes and Prices:82657, 84155, 88233, 88240 Shipping InformationForms:Test Codes:4603 |