Abstract
Pyruvate dehydrogenase complex (PDHC) deficiency is a metabolic disease associated with lactic acidosis, and mutation in PDHA1 is the major cause.1,2 The incidence rate of West syndrome among patients with PDHC deficiency was reported as 17%.3 Previous studies reported the clinical experience of antiepileptic therapies, including ketogenic diet and/or administration of vitamin B1, B6, sodium dichloroacetate, adrenocorticotropic hormone, zonisamide, valproic acid, and vigabatrin; however, few studies demonstrated the effectiveness of these treatments.
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