title: [Glucose transport hereditary diseases].
abstract: 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.
authors.affiliation: Department of Neurology, Neurological Institute of New York, Children's Hospital of New York, College of Physicians and Surgeons, Columbia University, New York, New York, USA. dr.juan.pascual@gmail.com
authors.forename: Juan M
authors.initials: JM
authors.lastname: Pascual
mesh_terms: D001692:Biological Transport / Q000235:genetics; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*; D005947:Glucose / Q000235:genetics / Q000378:metabolism*; D051272:Glucose Transporter Type 1 / Q000235:genetics / Q000378:metabolism; D051273:Glucose Transporter Type 2 / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics / Q000378:metabolism
chemical_list: D051272:Glucose Transporter Type 1; D051273:Glucose Transporter Type 2; C495674:SLC5A1 protein, human; D051269:Sodium-Glucose Transporter 1; D005947:Glucose