Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

Marie-Céline François-HeudeElise LebigotEmmanuel RozeMarie Thérèse Abi WardeClaude CancesLena DamajCaroline EspilJoel FlussPascale de LonlayIlse KernGuy LenaersArnold MunnichPierre MeyerMarie-Aude SpitzStéphanie TorreDiane DoummarGuy TouatiNicolas LeboucqAgathe Roubertie

Published in: European journal of neurology (2022)

Movement disorders, including abnormal ocular movements, are a hallmark of HIBCHD and ECHS1D. MDs are not uniform; dystonia is the most frequent, and various types of MD are combined in single patient.

Keyphrases

case report
molecular dynamics