Three successful pregnancies in a patient with glycogen storage disease type 0.

ABSTRACT: Glycogen storage disease type 0 (GSD 0) is a rare inborn error of metabolism due to deficiency of the enzyme glycogen synthase (EC 2.4.1.11). The disorder is clinically characterized by ketotic fasting hypoglycemia in combination with postprandial hyperglycemia and hyperlactatemia. So far, only one pregnancy has been described in a woman with GSD 0. We report a 32-year-old GSD 0 patient with three successful pregnancies. The diagnosis of GSD 0 was made in early childhood due to characteristic symptoms. The patient had two healthy children at the time of her first visit in our metabolic center. The diet was optimized prior to her third pregnancy with a protein-rich diet including cornstarch and protein supplements. Pregnancy was confirmed at week 6 of gestation. Dietary management was diffi

SUBMITTER: Grunert SC 

PROVIDER: S-EPMC7802628 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature