{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Koneshamoorthy A"],"funding":["National Health and Medical Research Council"],"pubmed_abstract":["We present a case of an obese 22-year-old man with activating <i>GCK</i> variant who had neonatal hypoglycemia, re-emerging with hypoglycemia later in life. We investigated him for asymptomatic hypoglycemia with a family history of hypoglycemia. Genetic testing yielded a novel <i>GCK</i> missense class 3 variant that was subsequently found in his mother, sister and nephew and reclassified as a class 4 likely pathogenic variant. Glucokinase enables phosphorylation of glucose, the rate-limiting step of glycolysis in the liver and pancreatic β cells. It plays a crucial role in the regulation of insulin secretion. Inactivating variants in <i>GCK</i> cause hyperglycemia and activating variants cause hypoglycemia. Spleen-preserving distal pancreatectomy revealed diffuse hyperplastic islets, nucl"],"journal":["Frontiers in endocrinology"],"pagination":["842937"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8969599"],"repository":["biostudies-literature"],"pubmed_title":["Case Report: Hypoglycemia Due to a Novel Activating Glucokinase Variant in an Adult - a Molecular Approach."],"pmcid":["PMC8969599"],"pubmed_authors":["Seniveratne-Epa D","Farrell S","Chin LK","Taylor S","Sachithanandan N","Koneshamoorthy A","Calder G","Sawyer M","MacIsaac RJ","Liu X","Mariana L","Thorn P","Zacharin M","Krishnamurthy B","Trainer A","Thomas HE","Tong J","Kay TWH","Loudovaris T","Lyu R","McCarthy D"],"additional_accession":[]},"is_claimable":false,"name":"Case Report: Hypoglycemia Due to a Novel Activating Glucokinase Variant in an Adult - a Molecular Approach.","description":"We present a case of an obese 22-year-old man with activating <i>GCK</i> variant who had neonatal hypoglycemia, re-emerging with hypoglycemia later in life. We investigated him for asymptomatic hypoglycemia with a family history of hypoglycemia. Genetic testing yielded a novel <i>GCK</i> missense class 3 variant that was subsequently found in his mother, sister and nephew and reclassified as a class 4 likely pathogenic variant. Glucokinase enables phosphorylation of glucose, the rate-limiting step of glycolysis in the liver and pancreatic β cells. It plays a crucial role in the regulation of insulin secretion. Inactivating variants in <i>GCK</i> cause hyperglycemia and activating variants cause hypoglycemia. Spleen-preserving distal pancreatectomy revealed diffuse hyperplastic islets, nucl","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-04-08T18:07:14.832Z","creation":"2025-04-05T22:19:43.134Z"},"accession":"S-EPMC8969599","cross_references":{"pubmed":["35370948"],"doi":["10.3389/fendo.2022.842937"]}}