title: GALK inhibitors for classic galactosemia.
abstract: Classic galactosemia is an inherited metabolic disease for which, at present, no therapy is available apart from galactose-restricted diet. However, the efficacy of the diet is questionable, since it is not able to prevent the insurgence of chronic complications later in life. In addition, it is possible that dietary restriction itself could induce negative side effects. Therefore, there is a need for an alternative therapeutic approach that can avert the manifestation of chronic complications in the patients. In this review, the authors describe the development of a novel class of pharmaceutical agents that target the production of a toxic metabolite, galactose-1-phosphate, considered as the main culprit for the cause of the complications, in the patients.
authors: Division of Medical Genetics, Department of Pediatrics, University of Utah, 50 N Medical Drive, Salt Lake City, UT 84132, USA.
authors: Kent
authors: K
authors: Lai
authors: Matthew B
authors: MB
authors: Boxer
authors: Anna
authors: A
authors: Marabotti
mesh_terms: D005686:Galactokinase / Q000037:antagonists & inhibitors* / Q000172:deficiency / Q000378:metabolism; D005693:Galactosemias / Q000188:drug therapy* / Q000201:enzymology* / Q000378:metabolism; D006801:Humans
chemical_list: D005686:Galactokinase