Successful pregnancy in a woman with glycogen storage disease type 6.
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ABSTRACT:
SUBMITTER: Grunert SC
PROVIDER: S-EPMC8129987 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Publications
Successful pregnancy in a woman with glycogen storage disease type 6.
Grünert Sarah Catharina SC Rosenbaum-Fabian Stefanie S Hannibal Luciana L Schumann Anke A Spiekerkoetter Ute U
Molecular genetics and metabolism reports 20210508
Glycogen storage disease type VI is caused by biallelic variants in the <i>PYGL</i> gene that result in hepatic glycogen phosphorylase deficiency<i>.</i> The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy. Although most patients reach adulthood without major complications, no pregnancies in women with GSD VI have been reported so far. We report on a successful pregnancy in a GSD VI patient that resulted in a healthy offspring and describe the ...[more]
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