title: Pitfalls and drawbacks in screening of congenital disorders of glycosylation.
abstract: Congenital disorders of glycosylation include a group of diseases, each of them caused by different protein (mostly enzyme) impairment due to a specific gene defect. The many subtypes are classified according to clinical features, enzymology and molecular genetic analyses. Problems in diagnostics arise from the great diversity in clinical presentation, usually age-related, and different severities of individual types of these, by far underdiagnosed, diseases. Also the biochemical findings tend to vary, even within a single type. No one screening test, common for all types, is available so far. Several methods of choice may be used in the first approach; other procedures must follow for detailed typing of the defect. Possible drawbacks and pitfalls in the diagnostics from the viewpoint of our 3-year studies and practical screening experience are presented.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Charles University, Hradec Králové, Czech Republic. marklova@lfhk.cuni.cz
authors.forename: Eliska
authors.initials: E
authors.lastname: Marklová
authors.forename: Ziad
authors.initials: Z
authors.lastname: Albahri
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D014644:Genetic Variation; D006023:Glycoproteins / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D006031:Glycosylation; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008403:Mass Screening / Q000379:methods*; D014168:Transferrin / Q000031:analogs & derivatives* / Q000032:analysis / Q000134:cerebrospinal fluid
chemical_list: D015415:Biomarkers; D006023:Glycoproteins; D014168:Transferrin; C056759:carbohydrate-deficient transferrin