title: Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolisaccharidosis IIIA and potentially other lysosomal disorders.
abstract: Diagnosis of lysosomal storage disorders (LSDs) is mainly based on specific enzyme assays in leucocytes. Dried blood spots have also been used as sample for the enzyme assays. However, some lysosomal enzymes such as heparan-N-sulfamidase (HNS) and others cannot be assayed by this material. We developed an assay for HNS using dried leukocytes impregnated in filter paper (DLFP) as source of enzyme, and the results allowed the correct identification of Mucopolisaccharidosis IIIA. From this proof of concept we predict that the assay of lysosomal enzymes in DLFP samples, which still needs further development, could be a useful tool for the diagnosis of LSDs, especially in regions where transportation of liquid blood samples in appropriate conditions for long distances and/or across country borders is challenging.
authors.affiliation: Medical Genetics Service, HCPA, Brazil.
authors.forename: G
authors.initials: G
authors.lastname: Civallero
authors.forename: J
authors.initials: J
authors.lastname: De Mari
authors.forename: M
authors.initials: M
authors.lastname: Viapiana Camelier
authors.forename: M
authors.initials: M
authors.lastname: Burin
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D006801:Humans; D006867:Hydrolases / Q000032:analysis*; D007962:Leukocytes / Q000201:enzymology*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009084:Mucopolysaccharidosis III / Q000175:diagnosis*
chemical_list: D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase