Genetic studies have linked variants in DHTKD1 to the (neuro) pathogenesis of several metabolic disorders: α-aminoadipic and α-ketoadipic aciduria (AMOXAD: MIM 204750) [9,10,11], Charcot-Marie-Tooth disease type 2Q (CMT2Q: MIM 615025) [12,13,14] and eosinophilic esophagitis (EoE), a chronic allergic disorder [6]. Here, DHTKD1 is linked to Other metabolic disease.