However, there is also evidence suggesting that loss‐of‐function DGUOK mutations result in much milder clinical presentations such as limb weakness, myopathy, and portal vein hypertension in adult patients (Ronchi et al, 2012; El‐Hattab & Scaglia, 2013; Vilarinho et al, 2016). This evidence concerns the gene DGUOK and myopathy.