Disorders of Carbohydrate Metabolism and Glucose Transport

Abstract

Carbohydrates are one of the most important sources of energy in the human organism. Within the body, glucose is the most abundant monosaccharide which can be stored as glycogen, a branched polymer, in liver and muscle. Inborn errors of metabolism may affect the uptake, distribution and reabsorption of monosaccharides in different organs, a process which is meticulously regulated by a system of transporter proteins. Congenital disorders may impair the conversion of other monosaccharides (fructose, galactose) into glucose. They can further affect glycogen formation, glycogen breakdown (glycogenolysis), glucose metabolism to acetyl-CoA (glycolysis) and de novo synthesis of glucose from glucoplastic amino acids or from lactate (gluconeogenesis).