Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).
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.
Biffi
Stefania
S
Laboratory for Encephalomyopathies of the Neuropsychiatric Ward, Institute of Child Health IRCCS Burlo Garofolo - Trieste, Italy.
Tamaro
Giorgio
G
Bortot
Barbara
B
Zamberlan
Silvia
S
Severini
Giovanni Maria
GM
Carrozzi
Marco
M
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
D015415:Biomarkers; D014168:Transferrin; C056759:carbohydrate-deficient transferrin