A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome
Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycoge...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2021-07-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2021-0013 |
| _version_ | 1827845237170503680 |
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| author | Olgac A Okur İ Biberoğlu G Ezgü FS Tümer L |
| author_facet | Olgac A Okur İ Biberoğlu G Ezgü FS Tümer L |
| author_sort | Olgac A |
| collection | DOAJ |
| description | Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome. |
| first_indexed | 2024-03-12T08:53:44Z |
| format | Article |
| id | doaj.art-520bfc7158984610bff713d9df79e5b1 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T08:53:44Z |
| publishDate | 2021-07-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-520bfc7158984610bff713d9df79e5b12023-09-02T16:10:18ZengSciendoBalkan Journal of Medical Genetics1311-01602021-07-0124110310610.2478/bjmg-2021-0013A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndromeOlgac A0Okur İ1Biberoğlu G2Ezgü FS3Tümer L4Department of Pediatric Metabolism, Division of Pediatric Metabolism, University of Health Sciences, Dr. Sami Ulus Maternity and Child Health, Training and Research Hospital, Ankara, TurkeyDepartment of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, TurkeyDepartment of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, TurkeyDepartment of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, TurkeyDepartment of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, TurkeyGlycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome.https://doi.org/10.2478/bjmg-2021-0013familial chylomicronemia syndrome (fcs)glycogen storage disease type 1a (gsd1a)hypertriglyceridemia (htg)pancreatitis |
| spellingShingle | Olgac A Okur İ Biberoğlu G Ezgü FS Tümer L A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome Balkan Journal of Medical Genetics familial chylomicronemia syndrome (fcs) glycogen storage disease type 1a (gsd1a) hypertriglyceridemia (htg) pancreatitis |
| title | A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| title_full | A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| title_fullStr | A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| title_full_unstemmed | A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| title_short | A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| title_sort | case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome |
| topic | familial chylomicronemia syndrome (fcs) glycogen storage disease type 1a (gsd1a) hypertriglyceridemia (htg) pancreatitis |
| url | https://doi.org/10.2478/bjmg-2021-0013 |
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