A call for caution in expanding the mutational spectrum of SI gene deficiency.

Abstract excerpt

BACKGROUND: Genetic sucrase-isomaltase deficiency (GSID) is increasingly recognized as a potentially underdiagnosed cause of chronic gastrointestinal symptoms in both children and adults. Once considered a rare autosomal recessive disorder with early, severe presentation, it is now understood to encompass a broader clinical spectrum, including milder and later-onset phenotypes that may overlap with irritable...

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