enoyl-CoA hydratase 1 deficiency(English)

• a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. It is characterized by severe neurological and physical impairment that often leads to childhood mortality
• AA, BCAA
• Metabolism, Pediatrics, Genetics, Neuropathy, Biochemistry
• https://doi.org…1002/jimd.12840