NDUFAF8 was first identified through its interaction with NDUFAF5, a known complex I assembly factor. The precise function of NDUFAF8 is not presently known although evidence supports a role in the early assembly of complex I There is one report of NDUFAF8-related pathology in the literature to date, describing three 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 progressive clinical decline and fatality in childhood.