In this study, we subjected DNA from a PEO patient with unidentified genetic etiology to exome sequencing and detected a novel, homozygous missense variant in RRM2B. RRM2B encodes p53-inducible ribonucleotide reductase small subunit 2-like protein (p53R2) and this protein plays an essential role in the maintenance of mtDNA by reducing ribonucleotides in the cytosol [17], as is indicated by the fact that rare variants in this gene cause various forms of mitochondrial diseases characterized by mtDNA depletion and deletions. The gene discussed is RRM2B; the disease is inborn mitochondrial metabolism disorder.