Inborn Errors of Carbohydrate Metabolism

Inborn errors of carbohydrate metabolism that lead to hepatic dysfunction are represented mainly by galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, IV, VI and IX. Although not related to energy disorders, congenital disorders of glycosylation (CDG) can likewise be placed in this group. The clinical presentation of such patients includes varying degree of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support the definitive diagnosis. Advances in biochemistry, molecular biology and genetics continuously increase our treatment options and the development of newer treatment strategies. This chapter highlights our current knowledge.