A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea |
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Affiliation: | 1. Division of Endocrinology and Metabolism, Children''s Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, K1H 8L1, Canada;2. Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Children''s Hospital Cairo University, Cairo University, 11562 Cairo, Egypt;3. Metabolics, Department of Pediatrics, Children''s Hospital of Eastern Ontario, University of Ottawa, Ottawa, K1H 8L1, Canada |
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Abstract: | AimTo describe the atypical phenotype and genotype of an adolescent girl with symptomatic exercise-induced hyperglycaemia, responsive to sulfonylurea treatment.MethodsChart review, gene sequencing, and blinded continuous glucose monitoring (Medtronic iPro2) were used to characterise the case.ResultsA novel heterozygous mutation p.Q219x (c.655C>T) in exon 6 of the glucokinase gene (NM_000162.3) was confirmed in the patient and father. Initiation of gliclazide 20 mg twice daily was associated with resolution of symptoms and normalization of haemoglobin A1C (5.6%). Blinded continuous glucose monitoring demonstrated significantly less time spent in the hyperglycaemic range (sensor glucose > 8.0 mmol/L) when on twice daily gliclazide versus intermittent or no gliclazide (mean minutes/day with sensor glucose > 8 mmol/L: 53.6 ± 90.0 vs. 307.9 ± 246.6; P = 0.04).ConclusionsThis novel mutation in the glucokinase gene led to atypical symptomatic exercise-induced hyperglycaemia that was responsive to low dose sulfonylurea with self-reported additional benefit after reduction of carbohydrate intake. We postulate that her atypical clinical presentation was related to the intense elite-level physical activity combined with carbohydrate loading before exercise. |
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Keywords: | Glucokinase Heterozygote MODY2 Sulfonylurea compounds Exercise BG" },{" #name" :" keyword" ," $" :{" id" :" kw0035" }," $$" :[{" #name" :" text" ," _" :" Blood glucose GCK" },{" #name" :" keyword" ," $" :{" id" :" kw0045" }," $$" :[{" #name" :" text" ," $$" :[{" #name" :" italic" ," _" :" Glucokinase" },{" #name" :" __text__" ," _" :" gene GCK-MODY" },{" #name" :" keyword" ," $" :{" id" :" kw0055" }," $$" :[{" #name" :" text" ," _" :" Glucokinase maturity-onset diabetes of the young GSIR" },{" #name" :" keyword" ," $" :{" id" :" kw0065" }," $$" :[{" #name" :" text" ," _" :" Glucose stimulated insulin release SG" },{" #name" :" keyword" ," $" :{" id" :" kw0075" }," $$" :[{" #name" :" text" ," _" :" Sensor glucose |
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