Current and Future Treatments for Classic Galactosemia

B. Delnoy, A.I. Coelho, M.E. Rubio-Gozalbo*

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review

7 Citations (Web of Science)

Abstract

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications. The development of several animal models of classic galactosemia that (partly) mimic the biochemical and clinical phenotypes and the resolution of the crystal structure of GALT have provided important insights; however, precise pathophysiology remains to be elucidated. Novel therapeutic approaches currently being explored focus on several of the pathogenic factors that have been described, aiming to (i) restore GALT activity, (ii) influence the cascade of events and (iii) address the clinical picture. This review attempts to provide an overview on the latest advancements in therapy approaches.
Original languageEnglish
Article number75
Number of pages14
JournalJournal of Personalized Medicine
Volume11
Issue number2
DOIs
Publication statusPublished - 1 Feb 2021

Keywords

  • babble boot camp (bbc)
  • classic galactosemia
  • galactose 1-phosphate uridylyltransferase (galt)
  • galactosemia type 1
  • gene therapy
  • mrna therapy
  • pharmacological chaperones
  • transcranial alternating current stimulation (tacs)
  • Babble Boot Camp (BBC)
  • transcranial alternating current stimulation (tACS)
  • mRNA therapy
  • galactose 1-phosphate uridylyltransferase (GALT)

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