Science
A group of more than 130 disorders share a common problem: a glycosylation issue in development where the necessary sugar chains are fully or partly missing from their needed location on protein surfaces. Patients with one of the congenital disorders of glycosylation (CDG) called SLC35A2 CDG are missing galactose, the sugar in milk, on their proteins. Without this sugar chain building block, SLC35A CDG patients often suffer from severe epilepsy, liver dysfunction and decreased coagulation among other symptoms. Tune in to this month’s GenePod to hear Dr. Eva Morava, a professor of medical genetics at the Mayo Clinic, discuss how moonlighting enzymes and metabolic adaptation from a galactose supplement benefited patients in a small pilot study published in Genetics in Medicine. See acast.com/privacy for privacy and opt-out information.