Open AccessCurrent and Future Treatments for Classic Galactosemia
Author(s) -
Britt Delnoy,
Ana Daniela Coelho,
M. Estela RubioGozalbo
Publication year - 2021
Publication title -
journal of personalized medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.254
H-Index - 27
ISSN - 2075-4426
DOI - 10.3390/jpm11020075
Subject(s) - galactosemia , medicine , bioinformatics , galactose , phenotype , newborn screening , intensive care medicine , pediatrics , biology , genetics , biochemistry , gene
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.