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.
Financial & competing interests disclosure
This work was supported by research grant 1R01HD074844-01 (NIH/NICHD), another from the Galactosemia Foundation (K Lai), as well as one from 'Fondi di Ateneo per la Ricerca di Base' (FARB) 2013, ORSA130225 (A Marabotti). MB Boxer has a patent issued surrounding ML152. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.