Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants

Abstract Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactate...

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Main Authors: Elena A. Kamenets, Elena A. Gusarova, Natalia V. Milovanova, Yulia S. Itkis, Tatiana V. Strokova, Maria A. Melikyan, Irina V. Garyaeva, Irina G. Rybkina, Natalia V. Nikitina, Ekaterina Y. Zakharova
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:JIMD Reports
Subjects:
glycogen storage disease
glycogen synthase
GSD0
GYS2
hypoglycemia
ketones
Online Access:https://doi.org/10.1002/jmd2.12082

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