Current and Future Treatments for Classic Galactosemia.
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)
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
28 Jan 2021
28 Jan 2021
Historique:
received:
28
12
2020
revised:
23
01
2021
accepted:
24
01
2021
entrez:
2
2
2021
pubmed:
3
2
2021
medline:
3
2
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33525536
pii: jpm11020075
doi: 10.3390/jpm11020075
pmc: PMC7911353
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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