New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency

Key Points

• Novel neuroimaging findings indicate potential biomarkers for ECHS1 deficiency and its metabolic impacts.
• The study identifies altered pathways related to metabolic disorders associated with ECHS1 deficiency.
• Observational analysis employed various neuroimaging techniques across multiple metabolic disorder cases.
• These insights highlight the need for targeted interventions and improved diagnostic strategies for ECHS1 deficiency.