Disrupted valine metabolism and SCPC-mediated neurological toxicity in ECHS1 deficiency

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28 Oct 2026 0 comments

CONCLUSION: These studies demonstrate that accumulation of ECHS1D-specific valine intermediates, particularly SCPC, contributes to mitochondrial dysfunction and disease severity in ECHS1D. Dietary valine modulation during adolescence showed limited therapeutic benefit and induced broader metabolic perturbations, underscoring the need for improved therapeutic strategies.