Repurposing drugs for the treatment of galactosemia

Introduction: Galactosemia results from mutations in genes which code for enzymes involved in the metabolism of galactose. It has a wide range of symptoms ranging from the relatively mild (early onset cataracts) to severe damage to the liver, brain and ovaries. The only treatment is the removal or reduction of galactose in the diet. This treatment is unsatisfactory, particularly in the most severe forms of the disease. Considerable efforts are being made to develop specific therapies for galactosemia. These include gene therapies, pharmacological chaperones, drugs to block the production of potentially toxic metabolites and enzyme replacement therapy. Areas covered: This review considers existing drugs, nutrients and treatments which could be relatively rapidly repurposed for the treatment of galactosemia. If successful, these would improve the prognosis for galactosemia patients. Expert opinion: Dietary antioxidants which are widely used and generally considered safe (e.g. resveratrol, purple sweet potato color) should be tested for their efficacy in galactosemia. Pharmaceutical antioxidants (e.g. idebenone) should be considered. Phosphate supplementation, along with careful monitoring of phosphate levels in the patient’s diet should also be considered. Efforts to develop specific therapies for galactosemia should continue.