Pyruvate dehydrogenase complex deficiency (PDCD) is a rare mitochondrial disorder associated with impaired carbohydrate metabolism and aerobic energy production. The pyruvate dehydrogenase complex catalyses the oxidative decarboxylation of pyruvate to acetyl-CoA, linking the glycolysis pathway with the Krebs cycle. The complex consists of 3 enzymes: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2), dihydrolipoamide dehydrogenase (E3) and E3-binding protein. Mutations in the X-linked PDHA1 gene of the E1α subunit are most commonly associated with PDCD (76–85 %)[1], [2]. Missense mutations may correlate with a later age of onset [1]. The disease may manifest as lactic acidosis and encephalopathy, with presence of a variety of neurological symptoms and abnormal brain imaging (corpus callosum dysgenesis, Leigh syndrome)[1]. This report describes a patient with PDCD, linked to a PDHA1 mutation, who presented with generalized dystonia as the primary clinical feature.