Current and Future Treatments for Classic Galactosemia
| Autor: | M. E. Rubio-Gozalbo, Ana I. Coelho, Britt Delnoy |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Standard of care
lcsh:Medicine Medicine (miscellaneous) classic galactosemia Galactose Metabolism Review Bioinformatics galactosemia type 1 pharmacological chaperones 03 medical and health sciences 0302 clinical medicine medicine GalT activity galactose 1-phosphate uridylyltransferase (GALT) 030304 developmental biology 0303 health sciences business.industry lcsh:R Galactosemia mRNA therapy medicine.disease gene therapy Babble Boot Camp (BBC) business transcranial alternating current stimulation (tACS) 030217 neurology & neurosurgery |
| Zdroj: | Journal of Personalized Medicine Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021) |
| ISSN: | 2075-4426 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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