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Related Experiment Videos

Carbohydrate-deficient transferrin in galactosaemia

H Stibler1, U von Döbeln, B Kristiansson

  • 1Department of Neurology, Karolinska Hospital, Stockholm, Sweden.

Acta Paediatrica (Oslo, Norway : 1992)
|February 25, 1998
PubMed
Summary

Carbohydrate-deficient transferrin (CDT) levels are elevated in untreated galactosaemia due to abnormal transferrin isoforms. Dietary treatment normalizes CDT levels, indicating its effectiveness in managing this condition.

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Area of Science:

  • Biochemistry
  • Clinical Chemistry
  • Metabolic Disorders

Background:

  • Galactosaemia is a metabolic disorder requiring dietary management.
  • Carbohydrate-deficient transferrin (CDT) is a biomarker reflecting glycosylation status.
  • Altered transferrin isoforms are observed in various metabolic and genetic conditions.

Purpose of the Study:

  • To investigate carbohydrate-deficient transferrin (CDT) levels in patients with galactosaemia.
  • To assess the impact of dietary treatment on CDT levels over time.
  • To explore the relationship between galactose metabolism and transferrin glycosylation.

Main Methods:

  • Analysis of carbohydrate-deficient transferrin (CDT) in Guthrie cards from galactosaemia patients.
  • Monitoring CDT levels before and during dietary treatment (up to 9 years).

Related Experiment Videos

  • In vitro assays of glycosyltransferases and correlation analysis with CDT values.

    • Main Results:

    • Untreated galactosaemia patients showed elevated CDT levels, primarily due to asialo- and/or disialotransferrin.
    • Dietary treatment generally normalized CDT levels, with only transient elevations observed.
    • Galactose and its metabolites did not inhibit relevant glycosyltransferases in vitro, and their levels did not correlate with CDT.

    Conclusions:

    • Elevated CDT is a characteristic biochemical marker in untreated galactosaemia.
    • Dietary management effectively normalizes CDT levels in galactosaemia.
    • The mechanism of altered transferrin glycosylation in galactosaemia differs from CDG syndrome type I.