RBCK1 and Lafora disease: Notably, both Lafora Disease and HOIL-1 deficiency lead to hyperphosphorylation of glycogen at the C6 hydroxy group, something not observed in adult polyglucosan body disease caused by mutations in GBE1 (Glycogen Branching Enzyme 1) (Tagliabracci et al., 2008; Turnbull et al., 2010; DePaoli-Roach et al., 2015; Nitschke et al., 2017; Sullivan et al., 2019; Nitschke et al., 2022).