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Scandinavian Journal of Gastroenterology Volume 59, 2024 - Issue 6
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Research Articles

Congenital sucrase–isomaltase deficiency in Türkiye; a single center experience

Doğan Baruta Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, TurkeyCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-4662-4252
ORCID Icon,
Ezgi Kıran Taşcıa Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey
,
Bora Kunaya Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey
,
Burcu Güvenb Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
,
Betül Aksoyc Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey
,
Yeliz Çağan Appakc Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey
,
Miray Karakoyuna Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, TurkeyORCID Iconhttps://orcid.org/0000-0002-6533-6256
ORCID Icon,
Funda Çetina Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey
,
Ayşe Selimoğlud Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School, Memorial Ataşehir/Bahçelievler Hospital, İstanbul, Turkey
,
Huseyin Onaye Department of Medical Genetics, Ege University Hospital, Izmir, Turkey
&
Sema Aydoğdua Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey
 show all
Pages 647-651 | Received 06 Nov 2023, Accepted 25 Feb 2024, Published online: 08 Mar 2024

References

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  • Deb C, Campion S, Derrick V, et al. Sucrase-isomaltase gene variants in patients with abnormal sucrase activity and functional ­gastrointestinal disorders. J Pediatr Gastroenterol Nutr. 2021;72(1):29–35. doi:10.1097/MPG.0000000000002852.
  • Henström M, Diekmann L, Bonfiglio F, et al. Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome. Gut. 2018;67(2):263–270. doi:10.1136/gutjnl-2016-312456.
  • Taskin DG, Civan HA, Sari EE, et al. Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates. J Genet. 2023;102:31. PMID: 37349966.
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  • ANMC Congenital Sucrase-Isomaltase Deficiency (CSID) diagnosis and treatment guidelines. 2020.
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  • Kluch M, Socha-Banasiak A, Pacześ K, et al. The role of disaccharidases in the digestion - diagnosis and significance of their deficiency in children and adults. Pol Merkur Lekarski. 2020;49(286):275–278.
  • Boney A, Elser HE, Silver HJ. Relationships among dietary intakes and persistent gastrointestinal symptoms in patients receiving enzyme treatment for genetic sucrase-isomaltase deficiency. J Acad Nutr Diet. 2018;118(3):440–447. doi:10.1016/j.jand.2017.11.005.
  • Alfalah M, Keiser M, Leeb T, et al. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Gastroenterology. 2009;136(3):883–892. doi:10.1053/j.gastro.2008.11.038.
  • Uhrich S, Wu Z, Huang JY, et al. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr. 2012;55(S2):S34–S35. doi:10.1097/01.mpg.0000421408.65257.b5.
  • Husein DM, Wanes D, Marten LM, et al. Heterozygotes are a potential new entity among homozygotes and compound heterozygotes in congenital sucrase-isomaltase deficiency. Nutrients. 2019;11(10):2290. doi:10.3390/nu11102290.

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