title: Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.
abstract: Lysosomal storage disorders (LSD) present great clinical variability. Included in this group are sialic acid metabolism disorders (SAMD). In the present study, we describe the application of a 3-step protocol for the diagnosis of SAMD, including (1). oligosaccharide and sialyloligosaccharide chromatography; (2). quantitative determination of sialic acid; and (3). measurement of neuraminidase activity. Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. Due to its simplicity and efficiency, we propose the use of this protocol for the diagnostic evaluation of patients with suspected SAMD, which could be specially useful to non-specialized laboratories and to services located in developing countries.
authors.affiliation: Department of Biochemistry, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: Cristina D
authors.initials: CD
authors.lastname: Castilhos
authors.forename: Alexandre S
authors.initials: AS
authors.lastname: Mello
authors.forename: Maira G
authors.initials: MG
authors.lastname: Burin
authors.forename: Régis R
authors.initials: RR
authors.lastname: Guidobono
authors.forename: Silvane
authors.initials: S
authors.lastname: Gotardo
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Janice C
authors.initials: JC
authors.lastname: Coelho
mesh_terms: D000293:Adolescent; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002985:Clinical Protocols; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000652:urine; D009439:Neuraminidase / Q000172:deficiency; D009844:Oligosaccharides / Q000737:chemistry / Q000652:urine*; D012307:Risk Factors; D012794:Sialic Acids / Q000378:metabolism* / Q000652:urine; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D009844:Oligosaccharides; D012794:Sialic Acids; D009439:Neuraminidase; D001616:beta-Galactosidase