Of particular relevance to the essential processes underlying mitochondrial biogenesis, metabolism and mitophagy, ATAD3A has been considered one of most common genes linked to mitochondrial diseases in childhood, and deletion of ATAD3A and its orthologues in flies, worms, and mammals leads to embryonic lethality with growth retardation and aberrant mitochondrial activity [1, 9–11]. Here, ATAD3A is linked to mitochondrial disease.