Genetic studies have linked mutations in the DHTKD1 gene encoding E1a to the (neuro) pathogenesis of several disorders: alpha-aminoadipic and alpha-ketoadipic aciduria (AMOXAD), an inborn error of metabolism of unknown clinical significance [8,9,10]; Charcot-Marie-Tooth disease type 2Q (CMT2Q), a disease of the peripheral nervous system [11,12]; eosinophilic esophagitis (EoE), a chronic allergic disorder [6], and infantile-onset spinal muscular atrophy (SMA) [13]. Here, DHTKD1 is linked to 2-aminoadipic 2-oxoadipic aciduria.