Pregnancy in a patient with glycogen storage disease type Ia (von Gierke disease): case report and management strategy

Abstract

Glycogen storage disease type I (GSDI) is caused by biallelic pathogenic variants in the gene encoding the glucose-6-phosphatase complex. Deficiency of this enzyme in the liver, kidneys, and intestines leads to glycogen accumulation in these organs and, consequently, to inadequate glucose production due to impaired glycogenolysis and gluconeogenesis. The condition is rare, and only a limited number of cases have been reported in pregnant women with favorable maternal and perinatal outcomes. This is partly because GSDI has been associated with significant morbidity, including maternal metabolic disturbances, renal and/or hepatic disease, preeclampsia, and fetal growth restriction, among other complications. We present the case of a 23-year-old woman with a diagnosis of GSDI who was evaluated at 19 weeks of pregnancy and managed according to a multidisciplinary protocol, resulting in a favorable perinatal outcome. This case highlights the need for clinical management protocols with specific strategies during the preconception period, pregnancy, delivery, and postpartum, aimed at preventing complications and improving maternal and perinatal outcomes.