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13-1030F What Is Metabolomics And How Can It Help Us Understand Classic Galactosemia?

Judith L. Fridovich-Keil, PhD

Classic galactosemia results from impaired GALT activity, which limits a person's ability to metabolize galactose...but are there also other metabolic consequences of GALT deficiency? To address this question we applied an approach called metabolomics, which leverages the power of mass spectrometry to identify thousands of small molecules in a biological sample. Using metabolomics we analyzed plasma samples from 183 volunteers who have classic galactosemia (cases) and also 31 volunteers who do not have classic galactosemia (controls). By comparing the results from these samples we identified numerous pathways beyond galactose metabolism that are clearly perturbed in association with classic galactosemia. Recognizing these previously unappreciated consequences of GALT deficiency provides insight into mechanism and numerous potential new targets for intervention. To hear all the details and participate in the conversation please join us for this session.