NDUFA6 is a supernumerary subunit of complex I, located in the Q module of the holoenzyme. There is one report of NDUFA6-related pathology in the literature to date, describing four patients with recessive variants. It is therefore a very rare disorder, as far as we are aware, these are the only cases identified to date. All affected individuals presented early in life, and two had very severe clinical presentations associated with rapid clinical decline and fatality in the first months of life.
NDUFA6