Síndromes hereditarios del transporte de glucosa

Several heritable disorders of glucose transport across cellular membranes have been recently characterized both genetically and pathophysiologically. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and GLUT1 deficiency syndrome are caused by mutation of transporters located in bowel, liver and brain, respectively. For example, the glucose transporter type 1 deficiency syndrome, a prototypical neurometabolic disease, combines manifestations such as epilepsy and hypoglycorrhachia, and is caused by heritable mutation of the SLC2A1 gene. All known glucose transporter mutations induce loss of membrane function at important cellular interfaces, limiting glucose uptake by energy-consuming cells. The fundamental role served by glucose transport allows these pleomorphic conditions to cross the boundaries of traditional clinical disciplines.