Article

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.
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Langue : ANGLAIS