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Article

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2020

Masnada Silvia, Parazzini Cecilia, Bini Paolo, Barbarini Mario, Alberti Luisella, Valente Marialuisa, Chiapparini Luisa, De Silvestri Annalisa, Doneda Chiara, Iascone Maria, Saielli Laura Assunta, Cereda Cristina, Veggiotti Pierangelo, Corbetta Carlo, Tonduti Davide

Abstract excerpt

INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous...

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PMID: 32800686
DOI: 10.1016/j.ejpn.2020.07.007

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