HNF4A and glycogen storage disease due to GLUT2 deficiency: Furthermore, specific mutations p.R63W and LRG_483t1:c.427-1G>A in HNF4α cause HI associated to hepatomegaly and renal Fanconi syndrome, a phenotype similar to Fanconi-Bickel syndrome (due to inactivating mutations of SLC2A2 resulting in nonfunctional glucose transporter 2, GLUT2).