Glucose transporter protein syndromes

Abstract

Publisher Summary The disturbances of carbohydrate homeostasis have interested clinicians and scientists since the recognition of diabetes mellitus. A parallel line of study emerged in the study of patients with recurrent or chronic hypoglycemic syndromes. These studies eventually led to an understanding of fuel-hormonal interrelationships with insulin playing a prominent role. However, this understanding has remained quite incomplete even following the discovery of several gene families that influence carbohydrate homeostasis. These families include the active co-transporters (SGLTs) and the facilitative glucose transporters (GLUTs). The recognition of these two gene families has expanded our understanding of carbohydrate metabolism and introduced new insights into human disease states. Now it is understood that the molecular basis for old conditions, such as the Fanconi-Bickel syndrome, and newer conditions such as the glucose-galactose malabsorption syndrome and the GLUT1 deficiency syndrome. However, understanding of disturbed carbohydrate homeostasis in the setting of diabetes mellitus remains incomplete, and it is expected that there will be further insight into the pathogenesis of this common human condition as we continue to explore the factors that control the movement of glucose across tissue membranes. This chapter focuses on the several clinical conditions that have been associated with documented mutations affecting the two glucose transporter gene families.