title: Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).
abstract: OBJECTIVE
  The aim of this study was to provide a tool based on CDT measurements for a diagnostic approach to identify patients affected by congenital disorders of glycosylation (CDG) in a selected population.
  
  
  METHODS
  Serum carbohydrate-deficient transferrin (CDT) of pediatric and adult patients (a total of 168 individuals) with neurological symptoms was analyzed. Abnormal results were confirmed by HPLC analysis and by enzymatic and molecular studies.
  
  
  RESULTS
  We found 6 patients (3.8%) with abnormal serum CDT; only two of them (1.9%) showed increased amounts of disialo and asialo with HPLC analysis and were classified as CDG-Ia, the most frequent form of CDG, due to a deficiency of the phosphomannomutase enzyme.
  
  
  CONCLUSIONS
  The CDT quantitative immunoturbidimetric procedure is a useful tool for CDG screening. HPLC analysis, however, permitted the correct identification of asialo and disialo transferrin concentrations.
authors.affiliation: Laboratory for Encephalomyopathies of the Neuropsychiatric Ward, Institute of Child Health IRCCS Burlo Garofolo - Trieste, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Biffi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Tamaro
authors.forename: Barbara
authors.initials: B
authors.lastname: Bortot
authors.forename: Silvia
authors.initials: S
authors.lastname: Zamberlan
authors.forename: Giovanni Maria
authors.initials: GM
authors.lastname: Severini
authors.forename: Marco
authors.initials: M
authors.lastname: Carrozzi
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006031:Glycosylation; D006801:Humans; D007118:Immunoassay; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D009391:Nephelometry and Turbidimetry; D014168:Transferrin / Q000031:analogs & derivatives* / Q000032:analysis / Q000235:genetics
chemical_list: D015415:Biomarkers; D014168:Transferrin; C056759:carbohydrate-deficient transferrin