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 <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>G...
Main Authors: | Koneshamoorthy, A, Seniveratne-Epa, D, Calder, G, Sawyer, M, Kay, TWH, Farrell, S, Loudovaris, T, Mariana, L, McCarthy, D, Lyu, R, Liu, X, Thorn, P, Tong, J, Chin, LK, Zacharin, M, Trainer, A, Taylor, S, MacIsaac, RJ, Sachithanandan, N, Thomas, HE, Krishnamurthy, B |
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Format: | Journal article |
Language: | English |
Published: |
Frontiers Media
2022
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