Current and Future Treatments for Classic Galactosemia.
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ABSTRACT:
SUBMITTER: Delnoy B
PROVIDER: S-EPMC7911353 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Publications
Current and Future Treatments for Classic Galactosemia.
Delnoy Britt B Coelho Ana I AI Rubio-Gozalbo Maria Estela ME
Journal of personalized medicine 20210128 2
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 ...[more]
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