ArticleWorld journal of clinical cases2022
Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Pregnancy in a patient with glycogen storage disease type Ia (von Gierke disease): case report and management strategy.AJOG global reports · 2026Article
- Successful surgical management of multiple hepatocellular adenomas in a young female patient with glycogen storage disease type Ia: a case report.Journal of medical case reports · 2026Article
- Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.BMC pregnancy and childbirth · 2025Article
- Dyslipidemia in Pregnancy: A Systematic Review of Molecular Alterations and Clinical Implications.Biomedicines · 2024Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlycogen storage disease type Ia (GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase (G6Pase), leading to disturbed glycogenolysis and gluconeogenesis. Patients with GSDIa show severe fasting hypoglycemia, hyperlipidemia, hyperlactacidemia, and hyperuricemia, which are associated with fatal outcomes in pregnant women and fetuses. CASE SUMMARY: Herein, we report the case of a 24-year-old female who on her first visit to the hospital, presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia, and frequent hypoglycemia occurred during the treatment. Genetic tests revealed a mutation in the G6Pase gene (
conclusionPatients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
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