Abstract
We describe 10-year-old girl with mild incidental hyperglycaemia, impaired glucose tolerance and GADA positivity. Family history for mild hyperglycaemia and GADA fluctuation alerted us to a possible MODY diagnosis which was confirmed by detection of GCK mutation c.626C>T; p.T209M. Weak or transient β-cell autoimmunity should not preclude genetic testing for MODY when the clinical features are suggestive.
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
MeSH terms
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Autoantibodies / blood*
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Blood Glucose / metabolism
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Child
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Diabetes Mellitus, Type 2 / blood
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Diabetes Mellitus, Type 2 / genetics*
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Diabetes Mellitus, Type 2 / immunology*
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Female
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Follow-Up Studies
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Genetic Testing
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Glucokinase / genetics*
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Glucose Tolerance Test
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Glycated Hemoglobin / metabolism
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Humans
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Hyperglycemia / blood
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Hyperglycemia / genetics
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Hyperglycemia / immunology
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Insulin / blood
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Insulin-Secreting Cells / immunology*
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Methionine
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Point Mutation*
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Prediabetic State / blood
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Prediabetic State / genetics
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Prediabetic State / immunology
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Threonine
Substances
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Autoantibodies
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Blood Glucose
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Glycated Hemoglobin A
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Insulin
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hemoglobin A1c protein, human
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Threonine
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Methionine
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Glucokinase
Supplementary concepts
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Maturity-Onset Diabetes of the Young, Type 2