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Updated: Sep 22, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Prenatal diagnosis of the organic acidurias

L Sweetman

    Journal of Inherited Metabolic Disease
    |January 1, 1984
    PubMed

    Insights

    Prenatal diagnosis for organic acidurias is improving. Measuring organic acids in amniotic fluid using stable isotope dilution analysis offers a rapid, reliable, and cost-effective method for genetic counseling.

    Area of Science:

    • Biochemistry
    • Genetics
    • Prenatal Medicine

    Background:

    • Organic acidurias are life-threatening genetic disorders.
    • Genetic counseling for at-risk families is crucial.
    • Advances in prenatal diagnosis are essential for early intervention.

    Purpose of the Study:

    • To review the advancements in prenatal diagnosis for organic acidurias.
    • To compare different prenatal diagnostic approaches.
    • To highlight the utility of specific diagnostic methods.

    Main Methods:

    • Enzyme activity assays in cultured amniocytes.
    • Measurement of organic acids in amniotic fluid.
    • Stable isotope dilution analysis for organic acid quantification.

    Main Results:

    • Prenatal diagnosis for organic acidurias is rapidly advancing.
    • Two primary diagnostic approaches exist: enzyme assays and organic acid measurement.
    • Stable isotope dilution analysis of amniotic fluid is rapid, inexpensive, and reliable.

    Conclusions:

    • Prenatal diagnosis significantly aids genetic counseling for families at risk.
    • Measurement of organic acids in amniotic fluid is a highly effective diagnostic tool.
    • Further development in prenatal diagnostics will improve outcomes for affected infants.

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