ArticleNutrients2019
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Article in Nutrients, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Diagnosing Congenital Sucrase-Isomaltase Deficiency in Children: An Algorithm Using Combined Breath Testing.Pediatric gastroenterology, hepatology & nutrition · 2026Article
- Review
- Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Interaction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestion.Frontiers in molecular biosciences · 2023Article
- Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.The application of clinical genetics · 2023Review
- NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.Diagnostics (Basel, Switzerland) · 2021Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. SI, together with maltase-glucoamylase (MGAM), belongs to the enzyme family of disaccharidases required for breakdown of -glycosidic linkages in the small intestine. The effects of homozygote and compound heterozygote inheritance trait of SI mutations in CSID patients have been well described in former studies. Here we propose the inclusion of heterozygote mutation carriers as a new entity in CSID, possibly presenting with milder symptoms. The hypothesis is supported by recent observations of heterozygote mutation carriers among patients suffering from CSID or patients diagnosed with functional gastrointestinal disorders. Recent studies implicate significant phenotypic heterogeneity depending on the character of the mutation and call for more research regarding the correlation of genetics, function at the cellular and molecular level and clinical presentation. The increased importance of SI gene variants in irritable bowel syndrome (IBS) or other functional gastrointestinal disorders FGIDs and their available symptom relief diets like fermentable oligo-, di-, mono-saccharides and polyols FODMAPs suggest that the heterozygote mutants may affect the disease development and treatment.
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