title: Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.
abstract: Abnormalities in protein glycosylation are reported in fructosemia (HFI) and galactosemia, although, particularly in HFI, the published data are limited to single cases. The purpose was to investigate the usefulness of the carbohydrate-deficient transferrin (CDT) profile for identification and monitoring of these disorders. First we analyzed CDT values before and shortly after the diagnosis in 10 cases of HFI and 17 cases of galactosemia. In all patients, elevated CDT levels were found that significantly (p < 0.0001) decreased with the therapeutic diet (27.3 +/- 11.5% versus 9.3 +/- 5.1% for HFI and 43.8 +/- 14.1% versus 11.2 +/- 4.0% for galactosemia). To evaluate the use of CDT test in monitoring compliance, the test was performed in 25 HFI patients on fructose-restricted diet. We found an elevated CDT level on 104 from 134 tests (mean 11.3 +/- 5.5%, control 1.5%-6.2%). The fructose intake was found to be 90 +/- 70 mg/kg/d, and the diet was unbalanced. A number of patients presented lower height, elevated urinary uric acid excretion, and hypercalciuria. In conclusion, abnormal percentage of CDT (%CDT) values may allow prompt detection of HFI (or galactosemia). Persistence of some abnormalities in HFI on treatment may be caused by trace amounts of fructose ingestion and/or a deficient diet. Regular %CDT measurements are suggested for HFI treatment monitoring.
authors.affiliation: Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw 04-730, Poland. e.pronicka@czd.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Pronicka
authors.forename: Maciej
authors.initials: M
authors.lastname: Adamowicz
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kowalik
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
authors.forename: Barbara
authors.initials: B
authors.lastname: Radomyska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rogaszewska
authors.forename: Dariusz
authors.initials: D
authors.lastname: Rokicki
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D004040:Dietary Carbohydrates / Q000378:metabolism; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D014168:Transferrin / Q000031:analogs & derivatives* / Q000235:genetics / Q000378:metabolism
chemical_list: D015415:Biomarkers; D004040:Dietary Carbohydrates; D014168:Transferrin; C056759:carbohydrate-deficient transferrin