MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients had MPV17 mutations.
Keywords: Hepatocerebral mitochondrial DNA depletion syndrome; MDS, mitochondrial DNA depletion syndrome; MPV17; Navajo neurohepatopathy; SD, standard deviation.