Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal.

With interest we read the article by Tarka et al. about the autopsy findings of an 8-year-old female with mitochondrial disorder (MID) due to the compound heterozygous variants c.2243G>C and c.2542G>A in POLG1 [1]. The patient manifested clinically with mental retardation, developmental regression, and myoclonic epilepsy, for which she received valproic acid (VPA) [1]. Neuropathological studies after death from acute pancreatitis and liver failure revealed bilaterally symmetric degenerative lesions of the accessory olivary nuclei in addition to typical features of Alpers-Huttenlocher disease (AHD) [1]. It was concluded that pancreatitis prior to liver failure is unusual [1]. The study is appealing but raises comments and concerns.