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Open AccessConcept Paper

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

1
Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Bünteweg 17, 30559 Hannover, Germany
2
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, D-20246 Hamburg, Germany
3
Department of General Pediatrics and Neonatology, University Medical Center Giessen and Marburg, Feulgenstr, 10-12, D-35392 Giessen, Germany
*
Author to whom correspondence should be addressed.
The two authors contributed equally for the manuscript.
Nutrients 2019, 11(10), 2290; https://doi.org/10.3390/nu11102290
Received: 23 August 2019 / Revised: 19 September 2019 / Accepted: 23 September 2019 / Published: 25 September 2019
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 α-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. View Full-Text
Keywords: congenital sucrase-isomaltase deficiency; intestinal brush border membrane; protein trafficking phenotypes; homozygote; compound heterozygote; heterozygote congenital sucrase-isomaltase deficiency; intestinal brush border membrane; protein trafficking phenotypes; homozygote; compound heterozygote; heterozygote
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Husein, D.M.; Wanes, D.; Marten, L.M.; Zimmer, K.-P.; Naim, H.Y. Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency. Nutrients 2019, 11, 2290.

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