title: Inborn errors of fructose metabolism.
abstract: A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria. Clinical presentations of these conditions, enzymatic and/or molecular defects, pathophysiological consequences, and modes of treatments are discussed.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta.
authors.forename: F A
authors.initials: FA
authors.lastname: Hommes
mesh_terms: D005631:Fructokinases / Q000172:deficiency; D015318:Fructose Metabolism, Inborn Errors / Q000378:metabolism*; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000378:metabolism; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D006801:Humans; D008286:Malabsorption Syndromes / Q000378:metabolism
chemical_list: D005631:Fructokinases; C046173:fructokinase; D005634:Fructose-Bisphosphate Aldolase