Case Report: Hypoglycemia Due to a Novel Activating Glucokinase Variant in an Adult – a Molecular Approach

We present a case of an obese 22-year-old man with activating GCK 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 GCK missense class 3 variant...

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Detalles Bibliográficos
Autores principales: Koneshamoorthy, Anojian, Seniveratne-Epa, Dilan, Calder, Genevieve, Sawyer, Matthew, Kay, Thomas W. H., Farrell, Stephen, Loudovaris, Thomas, Mariana, Lina, McCarthy, Davis, Lyu, Ruqian, Liu, Xin, Thorn, Peter, Tong, Jason, Chin, Lit Kim, Zacharin, Margaret, Trainer, Alison, Taylor, Shelby, MacIsaac, Richard J., Sachithanandan, Nirupa, Thomas, Helen E., Krishnamurthy, Balasubramanian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8969599/
https://www.ncbi.nlm.nih.gov/pubmed/35370948
http://dx.doi.org/10.3389/fendo.2022.842937

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