Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

Abstract

Paroxysmal exercise-induced dyskinesia (PED) is a rare disorder characterized by episodes of choreoathetosis or dystonia triggered by several minutes of exercise such as walking or running.1 Mutations in various genes have been associated with PED.1 We report a patient with intellectual disability and this unique phenotype associated with homozygous missense mutation in the DLAT gene (c.470T>G; p.Val157Gly) that encodes the E2 component of the pyruvate dehydrogenase complex (PDC). This case of PED associated with DLAT mutations broadens the phenotypic spectrum for this ultra-rare condition and widens the range of potentially treatable PEDs.