Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Peter WittersShawn TahataRita BaroneKatrin ÕunapRamona SalvarinovaSabine GrønborgGeorge HogansonFernando ScagliaAndrea Margaret LewisMari MoriJolanta Sykut-CegielskaAndrew EdmondsonMiao HeEva MoravaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Oral D-galactose supplementation results in clinical and biochemical improvement in SLC35A2-CDG. Galactose supplementation may partially overcome the Golgi UDP-galactose deficiency and improves galactosylation. Oral galactose is well tolerated and shows promise as dietary therapy.