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Glycogen storage disease type Ia (GSD Ia) during pregnancy: Report of a case complicated by fetal growth restriction and preeclampsia
Author(s) -
Yamamoto Tamao,
Suzuki Yoshikatsu,
Kaneko Saori,
Hattori Yukio,
Obayashi Shintaro,
Suzumori Nobuhiro,
Sugiura Mayumi
Publication year - 2010
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.2010.01287.x
Subject(s) - medicine , proteinuria , preeclampsia , pregnancy , gestation , hypoglycemia , fetus , glycogenolysis , glycogen storage disease type i , placental insufficiency , endocrinology , obstetrics , glycogen storage disease , disease , glycogen , placenta , kidney , diabetes mellitus , biology , genetics
Glycogen storage disease type Ia (GSD Ia) leads to disturbed glycogenolysis and gluconeogenesis due to a deficiency in the enzyme glucose‐6‐phosphatase. A patient with GSD Ia showed hypoglycemia and proteinuria without dietary management since early pregnancy. The patient's condition was complicated by hypertension with increase in proteinuria at 22 weeks of gestation. In spite of administration of antihypertensive drugs and dietary management, the disease became more severe with deterioration in the fetal status and inhibition of fetal growth. Thus, a cesarean section was performed at 26 weeks of gestation. The delivered male infant weighing 412 g died at 2 days after birth. The patient's blood pressure had normalized within 3 months after delivery, while proteinuria persisted.