Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

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dc.authoridSarı, Emine Ergül/0000-0003-0161-4154
dc.authoridGULCU TASKİN, Didem/0000-0002-2746-3799
dc.authoridAltuntaş, Cansu/0000-0002-1161-5145
dc.authorwosidSarı, Emine Ergül/GRO-3380-2022
dc.authorwosidGULCU TASKİN, Didem/ABI-8604-2022
dc.authorwosidAltuntaş, Cansu/AGV-9547-2022
dc.contributor.authorTaskin, Didem Gulcu
dc.contributor.authorCivan, Hasret Ayyildiz
dc.contributor.authorSarI, Emine Ergul
dc.contributor.authorAltuntas, Cansu
dc.contributor.authorErsoy, Melike
dc.contributor.authorTuncel, Tolga
dc.contributor.authorOnay, Huseyin
dc.date.accessioned2024-05-19T14:40:49Z
dc.date.available2024-05-19T14:40:49Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractCongenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.en_US
dc.identifier.doi10.1007/s12041-023-01428-8
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85160919004en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://doi.org10.1007/s12041-023-01428-8
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5020
dc.identifier.volume102en_US
dc.identifier.wosWOS:000999618800001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherIndian Acad Sciencesen_US
dc.relation.ispartofJournal of Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectDiarrheaen_US
dc.subjectHeterozygous Carriersen_US
dc.subjectSacrosidaseen_US
dc.subjectSucroseen_US
dc.subjectSucrose-Isomaltase Deficiencyen_US
dc.titlePrevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimatesen_US
dc.typeArticleen_US

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