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Galactosemia: evidence for a structural gene mutation.

T A Tedesco, W J Mellman

    Science (New York, N.Y.)
    |May 14, 1971
    PubMed
    Summary

    Antibodies to galactose-1-phosphate uridyl transferase reacted identically with normal and galactosemic red blood cells. Galactosemic cells absorbed antibodies that precipitate the active enzyme, indicating enzyme presence in galactosemia.

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    Clinical genetics·1988

    Area of Science:

    • Biochemistry
    • Immunology
    • Genetics

    Background:

    • Galactosemia is a metabolic disorder.
    • Galactose-1-phosphate uridyl transferase (GALT) is a key enzyme in galactose metabolism.
    • Understanding GALT activity in galactosemia is crucial for diagnosis and management.

    Purpose of the Study:

    • To investigate the immunological properties of human galactose-1-phosphate uridyl transferase.
    • To determine if antibodies to GALT can differentiate between normal and galactosemic red blood cells.

    Main Methods:

    • Double immunodiffusion assays were performed.
    • Rabbit antibodies against human GALT were generated.
    • Red blood cell preparations from normal and galactosemic individuals were used.
    • Antibody absorption studies were conducted.

    Main Results:

    • Identical immunoprecipitin reactions were observed between anti-GALT antibodies and red cell preparations from both normal and galactosemic individuals.
    • Galactosemic erythrocyte preparations quantitatively absorbed the antibody that immunoprecipitates enzymatically active GALT.
    • This suggests the presence of enzymatically active GALT in galactosemic erythrocytes, despite the clinical condition.

    Conclusions:

    • The study demonstrates that antibodies to human galactose-1-phosphate uridyl transferase do not distinguish between normal and galactosemic red blood cells immunologically.
    • The findings imply that galactosemic erythrocytes contain the antigen recognized by anti-GALT antibodies, suggesting the presence of the enzyme protein.
    • Further research is needed to understand the implications of this finding for GALT function in galactosemia.

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