This is consistent with the observation that human patients with the p.Y329S variant in compound heterozygosity with another GBE1 variant typically present with less severe hepatic phenotypes in childhood (including C3, C11, C12, and C45) and/or neurological features consistent with APBD (10, 12, 18, 27). This evidence concerns the gene GBE1 and adult polyglucosan body disease.