This combination of early liver pathology followed by later onset neurological sequelae is also seen in Niemann–Pick disease, type C. Neonatal liver failure is also a frequent finding of mtDNA depletion disorders (eg, due to variants in POLG, DGUOK, MPV17) and in some of the liver biopsies of affected MEGDHEL individuals mild mitochondrial depletion was reported. The gene discussed is DGUOK; the disease is Niemann-Pick disease type C.