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This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective <jats:italic>SI<\/jats:italic> gene sequencing. A prospective cross\u2010sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent <jats:italic>SI<\/jats:italic> gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three\u2010day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on <jats:italic>SI<\/jats:italic> gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non\u2010specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for <jats:italic>SI<\/jats:italic> variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the <jats:italic>SI<\/jats:italic> gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms.<\/jats:p>","DOI":"10.1002\/aur.3293","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T10:50:14Z","timestamp":1734346214000},"page":"44-55","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exploring congenital sucrase\u2010isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective <scp><i>SI<\/i><\/scp> gene sequencing study"],"prefix":"10.1002","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7159-4008","authenticated-orcid":false,"given":"Tanyel","family":"Zubarioglu","sequence":"first","affiliation":[{"name":"Cerrahpa\u015fa Medical Faculty, Division of Pediatric Nutrition and Metabolism \u0130stanbul University\u2010Cerrahpa\u015fa  \u0130stanbul 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