Classic Galactosemia: Clinical and Computational Characterization of a Novel <i>GALT</i> Missense Variant (p.A303D) and a Literature Review

Classic Galactosemia: Clinical and Computational Characterization of a Novel <i>GALT</i> Missense Variant (p.A303D) and a Literature Review

Classic galactosemia is an autosomal recessive inherited liver disorder of carbohydrate metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT). While a galactose-restricted diet is lifesaving, most patients still develop long-term complications. In this study, we...

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Bibliographic Details
Main Authors: Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
GALT
classic galactosemia
novel missense variant
Online Access:https://www.mdpi.com/1422-0067/24/24/17388

Internet

https://www.mdpi.com/1422-0067/24/24/17388

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