Repurposing drugs for the treatment of galactosemia

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish
Pages (from-to)443-451
Number of pages9
JournalExpert Opinion on Orphan Drugs
Volume7
Issue number10
DOIs
Publication statusPublished - 22 Oct 2019

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Drug Repositioning
Galactosemias
Galactose
Therapeutics
Antioxidants
Phosphates
Pharmaceutical Preparations
Diet
Ipomoea batatas
Enzyme Replacement Therapy
Poisons
Expert Testimony
Genetic Therapy
Cataract
Ovary
Color
Pharmacology
Food
Mutation
Liver

Bibliographical note

This is an Accepted Manuscript of an article published by Taylor & Francis in Expert Opinion on Orphan Drugs on 22/10/2019, available online: http://www.tandfonline.com/10.1080/21678707.2019.1672533

Keywords

  • Dietary antioxidant
  • idebenone
  • inherited metabolic disease
  • phosphate supplementation
  • purple sweet potato color
  • resveratrol

Cite this

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abstract = "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.",
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Repurposing drugs for the treatment of galactosemia. / Timson, David.

In: Expert Opinion on Orphan Drugs, Vol. 7, No. 10, 22.10.2019, p. 443-451.

Research output: Contribution to journalReview article

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