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HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA) hydrolase (HIBCH) and short‐chainenoyl‐CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1… Click to show full abstract
HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA) hydrolase (HIBCH) and short‐chainenoyl‐CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disorders spectrum in patients with pathogenic variants in ECHS1 and HIBC.
Keywords:
movement disorders;
disorders valine;
echs1;
hibch;
hibch echs1
Journal Title: European Journal of Neurology
Year Published: 2022
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Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
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recommendations!