Next-generation glycogen storage diseases

Excerpt

The glycogen storage diseases (GSD) are amongst the earliest recognized inborn errors of metabolism. After the Fulda Workshop on Glycogen Storage Disease (GSD) type I in 1990, international GSD conferences have been held in Fulda (2000), Milan (2010), Lyon (2012), and Heidelberg (2013). Since the start of the internet era, parent-led patient organizations have pushed for international guidelines for treatment and follow-up (Phillips 2002). Subsequent international collaborative cohort studies have defined the phenotypes of GSDs and facilitated the development of internationally agreed clinical guidelines. This special edition of the Journal of Inherited Metabolic Disease discusses highlights of the International GSD conference held at the University Medical Center Groningen, the Netherlands, between 15 and 17 June 2017 (IGSD2017). Fifty-three oral presentations, 52 posters, 11 networking sessions, and 2 “Meet the Expert” sessions attended by 406 participants from 36 countries reflected the recent progress in individualized and novel therapies, monitoring, and empowerment for patients with muscle- and/or liver-specific GSD types. …