Pregnancy with Glycogen Storage Disease Type Ⅰa: A Case Report and Literature Review

doi:10.12280/gjfckx.20210135

Abstract

Abstract:

Glycogen storage disease typeⅠ(GSDⅠ), also known as von Gierk disease, is an autosomal recessive disorder resulting from the deficiency of glucose-6-phosphatase (G6Pase) activity. GSDⅠa is the most common subtype of GSDⅠ, which can cause many kinds of clinical symptoms. The clinical data of one case of pregnancy complicated with GSDⅠa admitted to the First Affiliated Hospital of Guangxi Medical University were analyzed retrospectively. The clinical characteristics, diagnosis and management of pregnancy complicated with GSDⅠa were analyzed based on previous literature and some cases. GSD should be diagnosed and treated early, because it is easy to be misdiagnosed due to its complicated characteristics. Patients with GSDⅠa can successfully conceive under the condition of strict diet management, ensuring good metabolic control with pre-pregnancy counselling. Series strategies should be taken by multidisciplinary involvement when necessary.

Key words: Glycogen storage disease type I, Pregnancy, Adenoma,liver cell, Anemia, Therapy, G6PC gene

YIN Hong-yu, LI Li-ling, CHEN Yue. Pregnancy with Glycogen Storage Disease Type Ⅰa: A Case Report and Literature Review[J]. Journal of International Obstetrics and Gynecology, 2021, 48(6): 679-683.

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References 25

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