Ontology highlight
ABSTRACT:
SUBMITTER: Pajares S
PROVIDER: S-EPMC6940607 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Pajares S S López R M RM Gort L L Argudo-Ramírez A A Marín J L JL González de Aledo-Castillo J M JM García-Villoria J J Arranz J A JA Del Toro M M Tort F F Ugarteburu O O Casellas M D MD Fernández R R Ribes A A
Molecular genetics and metabolism reports 20200102
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exercise-induced dystonia and congenital lactic acidosis. Here we describe the case of a newborn with mutations in ECHS1 that caught our attention after the incidental finding of 3-hydroxy-b ...[more]