The first known human enolase deficiency was reported in 2001 [Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri Let al.(2001) Ann Neurol50,202–207]. The subject had inherited two mutated genes forb-enolase. These mutations changed glycine 156 to aspartate and glycine 374 to glutamate.