Successful pregnancy in a woman with glycogen storage disease type 6

Glycogen storage disease type VI is caused by biallelic variants in the PYGL gene that result in hepatic glycogen phosphorylase deficiency. The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy. Although most patients reach adulthood without major c...

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Bibliographic Details
Published in:Molecular Genetics and Metabolism Reports
Main Authors: Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, Anke Schumann, Ute Spiekerkoetter
Format: Article
Language:English
Published: Elsevier 2021-06-01
Subjects:
Glycogen storage disease type 6
GSD VI
Pregnancy
Ketotic glycogen storage disease
Glycogen phosphorylase deficiency
PYGL
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000641

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http://www.sciencedirect.com/science/article/pii/S2214426921000641

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