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The genetic study of showed a pathogenic variant (c.49GA, p.Glu17Lys). To achieve euglycemia, a diet of regular uncooked cornstarch (UCCS) carbohydrate was started. Subsequently, waxy maize heat-modified starch (WMHMS; Glycosade Vitaflo) was used to increase the fasting period to 4 hours. However, we did not find any advantages in comparison with UCCS. The range of phenotypes of this gain-of-function alteration in may be broad, including dysmorphic features, although the patients harbor the same pathogenic variant. Regarding the trea
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