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Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report
BACKGROUND: Glycogen 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 hypoglyce...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561557/ https://www.ncbi.nlm.nih.gov/pubmed/36246825 http://dx.doi.org/10.12998/wjcc.v10.i28.10273 |
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author | Wang, Jie Zhao, Yi Chang, Pan Liu, Bin Yao, Rong |
author_facet | Wang, Jie Zhao, Yi Chang, Pan Liu, Bin Yao, Rong |
author_sort | Wang, Jie |
collection | PubMed |
description | BACKGROUND: Glycogen 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 (G6PC) at 17q21, the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment. She has been treated with a continuous double filtration plasmapheresis (DFPP) strategy to remove blood lipids, and a cornstarch diet therapy. The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered. CONCLUSION: Patients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy. |
format | Online Article Text |
id | pubmed-9561557 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-95615572022-10-15 Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report Wang, Jie Zhao, Yi Chang, Pan Liu, Bin Yao, Rong World J Clin Cases Case Report BACKGROUND: Glycogen 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 (G6PC) at 17q21, the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment. She has been treated with a continuous double filtration plasmapheresis (DFPP) strategy to remove blood lipids, and a cornstarch diet therapy. The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered. CONCLUSION: Patients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy. Baishideng Publishing Group Inc 2022-10-06 2022-10-06 /pmc/articles/PMC9561557/ /pubmed/36246825 http://dx.doi.org/10.12998/wjcc.v10.i28.10273 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. |
spellingShingle | Case Report Wang, Jie Zhao, Yi Chang, Pan Liu, Bin Yao, Rong Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title | Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title_full | Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title_fullStr | Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title_full_unstemmed | Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title_short | Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report |
title_sort | double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type ia: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561557/ https://www.ncbi.nlm.nih.gov/pubmed/36246825 http://dx.doi.org/10.12998/wjcc.v10.i28.10273 |
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