What have we learned about glycogenosis in recent years?
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic pathways to be deciphered. Described here are the clinical and pathological features of four recently described muscle glycogenoses caused by GYS1, GYG1, RBCK1 and PGM1 gene mutations. The initial steps of glycogen synthesis are involved in deficiencies of glycogenin-1 (GYG1) and muscle glycogen synthase (GYS1). Phosphoglucomutase deficiency disrupts two metabolic pathways: the connection between galactose and glycogen on the one hand, and glucose metabolism on the other. However, the metabolic consequences of mutations in the ubiquitin ligase gene RBCK1 are still poorly understood.
Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, 47-83, boulevard de l'Hôpital, 75651 Paris, France. Electronic address: pascal.laforet@psl.aphp.fr.
P
P
Laforêt
D006008:Glycogen Storage Disease / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology
GYG1; GYS1; Glycogen synthase; Glycogenin-1; Muscle glycogenosis; PGM1; Phosphoglucomutase; Polyglucosan body; RBCK1