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). The gene discussed is SLC2A2; the disease is adult Fanconi syndrome.