In humans, severe MPV17 deficiency has been associated with a hepatocerebral form of mitochondrial DNA depletion syndrome which results in death due to liver failure at young ages, while less severe mutations have been linked to juvenile-onset peripheral neuropathy (Spinazzola et al., 2008; El-Hattab et al., 2018; Baumann et al., 2019). The gene discussed is MPV17; the disease is mitochondrial DNA depletion syndrome.