Article
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
International journal of molecular sciences - 12 Dec 2023
Forte Giovanna, Buonadonna Antonia Lucia, Pantaleo Antonino, Fasano Candida, Capodiferro Donatella, Grossi Valentina, Sanese Paola, Cariola Filomena, De Marco Katia, Lepore Signorile Martina, Manghisi Andrea, Guglielmi Anna Filomena, Simonetti Simonetta, Laforgia Nicola, Disciglio Vittoria, Simone Cristiano
Abstract excerpt
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 report on a two-week-old female patient who is a compound heterozygote for a known pathogenic variant (p.K285N) and...
Topics
- Female
- Humans
- Galactose
- Galactosemias
- Mutation
- Mutation, Missense
- UTP-Hexose-1-Phosphate Uridylyltransferase