A glycogen storage disease type 1a patient with type 2 diabetes
Abstract Background Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifesting as hypoglycemia, hyperuricemia, hyperlipidemia, lactic acidemia, hepa...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01344-3 |
| _version_ | 1811253630133600256 |
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| author | Yi Sun Wenhui Qiang Runze Wu Tong Yin Jie Yuan Jin Yuan Yunjuan Gu |
| author_facet | Yi Sun Wenhui Qiang Runze Wu Tong Yin Jie Yuan Jin Yuan Yunjuan Gu |
| author_sort | Yi Sun |
| collection | DOAJ |
| description | Abstract Background Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifesting as hypoglycemia, hyperuricemia, hyperlipidemia, lactic acidemia, hepatomegaly, and nephromegaly. The development of GSD1a with diabetes is relatively rare, and the underlying pathogenesis remains unclear. Case presentation Here we describe a case of a 25-year-old Chinese female patient with GSD1a, who developed uncontrolled type 2 diabetes mellitus (T2DM) as a young adult. The patient was diagnosed with GSD1a disease at the age of 10 and was subsequently treated with an uncooked cornstarch diet. Recently, the patient was treated in our hospital for vomiting and electrolyte imbalance and was subsequently diagnosed with T2DM. Owing to the impaired secretory function of the patient’s pancreatic islets, liver dysfunction, hypothyroidism, severe hyperlipidemia, and huge hepatic adenoma, we adopted diet control, insulin therapy, and hepatic adenoma resection to alleviate this situation. The WES discovered compound heterozygous mutations at the exon 5 of G6PC gene at 17th chromosome in the patient, c.648G>T (p.L216 L, NM_000151.4, rs80356484) in her father and c.674T>C (p.L225 P, NM_000151.4, rs1555560128) in her mother. c.648G>T is a well-known splice-site mutation, which causes CTG changing to CTT at protein 216 and creates a new splicing site 91 bp downstream of the authentic splice site, though both codons encode leucine. c.674T>C is a known missense mutation that causes TGC to become CGC at protein 225, thereby changing from coding for leucine to coding for proline. Conclusion We report a rare case of GSD1a with T2DM. On the basis of the pathogenesis of GSD1a, we recommend attentiveness to possible development of fasting hypoglycemia caused by GSD and postprandial hyperglycemia from diabetes. As the disease is better identified and treated, and as patients with GSD live longer, this challenge may appear more frequently. Therefore, it is necessary to have a deeper and more comprehensive understanding of the pathophysiology of the disease and explore suitable treatment options. |
| first_indexed | 2024-04-12T16:53:41Z |
| format | Article |
| id | doaj.art-47f99d76907b44549031aca16ac15535 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-12T16:53:41Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-47f99d76907b44549031aca16ac155352022-12-22T03:24:18ZengBMCBMC Medical Genomics1755-87942022-09-011511710.1186/s12920-022-01344-3A glycogen storage disease type 1a patient with type 2 diabetesYi Sun0Wenhui Qiang1Runze Wu2Tong Yin3Jie Yuan4Jin Yuan5Yunjuan Gu6Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityDepartment of Endocrinology and Metabolism, Affiliated Hospital of Nantong UniversityAbstract Background Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifesting as hypoglycemia, hyperuricemia, hyperlipidemia, lactic acidemia, hepatomegaly, and nephromegaly. The development of GSD1a with diabetes is relatively rare, and the underlying pathogenesis remains unclear. Case presentation Here we describe a case of a 25-year-old Chinese female patient with GSD1a, who developed uncontrolled type 2 diabetes mellitus (T2DM) as a young adult. The patient was diagnosed with GSD1a disease at the age of 10 and was subsequently treated with an uncooked cornstarch diet. Recently, the patient was treated in our hospital for vomiting and electrolyte imbalance and was subsequently diagnosed with T2DM. Owing to the impaired secretory function of the patient’s pancreatic islets, liver dysfunction, hypothyroidism, severe hyperlipidemia, and huge hepatic adenoma, we adopted diet control, insulin therapy, and hepatic adenoma resection to alleviate this situation. The WES discovered compound heterozygous mutations at the exon 5 of G6PC gene at 17th chromosome in the patient, c.648G>T (p.L216 L, NM_000151.4, rs80356484) in her father and c.674T>C (p.L225 P, NM_000151.4, rs1555560128) in her mother. c.648G>T is a well-known splice-site mutation, which causes CTG changing to CTT at protein 216 and creates a new splicing site 91 bp downstream of the authentic splice site, though both codons encode leucine. c.674T>C is a known missense mutation that causes TGC to become CGC at protein 225, thereby changing from coding for leucine to coding for proline. Conclusion We report a rare case of GSD1a with T2DM. On the basis of the pathogenesis of GSD1a, we recommend attentiveness to possible development of fasting hypoglycemia caused by GSD and postprandial hyperglycemia from diabetes. As the disease is better identified and treated, and as patients with GSD live longer, this challenge may appear more frequently. Therefore, it is necessary to have a deeper and more comprehensive understanding of the pathophysiology of the disease and explore suitable treatment options.https://doi.org/10.1186/s12920-022-01344-3GSD1aT2DMG6PC gene |
| spellingShingle | Yi Sun Wenhui Qiang Runze Wu Tong Yin Jie Yuan Jin Yuan Yunjuan Gu A glycogen storage disease type 1a patient with type 2 diabetes BMC Medical Genomics GSD1a T2DM G6PC gene |
| title | A glycogen storage disease type 1a patient with type 2 diabetes |
| title_full | A glycogen storage disease type 1a patient with type 2 diabetes |
| title_fullStr | A glycogen storage disease type 1a patient with type 2 diabetes |
| title_full_unstemmed | A glycogen storage disease type 1a patient with type 2 diabetes |
| title_short | A glycogen storage disease type 1a patient with type 2 diabetes |
| title_sort | glycogen storage disease type 1a patient with type 2 diabetes |
| topic | GSD1a T2DM G6PC gene |
| url | https://doi.org/10.1186/s12920-022-01344-3 |
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