Abstract
in filter paper, initially for the detection of heparan sulfamidase (MPS IIIA) and beta-galactosidase (GM1-gangliosidosis, MPS IVB, galactosialidosis) deficiencies. We prepared filter paper samples with dried-leukocytes or dried-fibroblast (DLFP, DFFP) from healthy individuals and from patients with confirmed MPS IIIA or GM1 gangliosidosis by direct transfer of cell homogenates to filter paper discs. Heparan sulfaminidase and beta-galactosidase were tested by incubating samples with specific buffers and substrates. For heparan sulfamidase, a clear discrimination was found between normal controls and MPS IIIA patients both in DLFP and DFFP samples. For beta-galactosidase, distinction between normal controls and GM1-gangliosisdosis patients was evidenced only in DLFP samples so far. Although the method still needs further development, we conclude that assays for these two enzymes could be performed in dried-cell homogenates, and could be an useful tool for LSD identification, especially in areas where liquid blood samples usually need to travel several days to reach the reference laboratory.
Published Version
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