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. This evidence concerns the gene POLG and Niemann-Pick disease type C.