CORDIS Project
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The project explores the therapeutic potential of phenylbutyrate for treating maple syrup urine disease and pyruvate dehydrogenase complex deficiency. It employs a zebrafish model and patient-derived stem cells to evaluate drug efficacy and metabolic pathways.
We discovered that phenylbutyrate, prevents both in vitro and in vivo the inactivation by phosphorylation of the branched chain ketoacid dehydrogenase complex (BCKDC) and pyruvate dehydrogenase complex (PDHC).
We show that phenylbutyrate is effective for treatment of maple syrup urine disease (MSUD) due to deficiency of branched chain ketoacid dehydrogenase complex (BCKDC), and has potential for therapy of deficiency of pyruvate dehydrogenase complex (PDHC).
We propose to investigate phenylbutyr…
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