Modern Pediatrics. Ukraine. (2025).5(149): 117-124. doi: 10.15574/SP.2025.9(149).117124
Berezenko V. S.^1,2, Krechko Ya. V.², Horobets A. O.², Bezpala A. V.^1,2
1SI «Ukrainian center of maternity and childhood of the NAMS of Ukraine», Kyiv
²Bogomolets National Medical University, Kyiv, Ukraine

For citation: Berezenko VS, Krechko YaV, Horobets AO, Bezpala AV. (2025). Congenital sucrase-isomaltase deficiency (clinical case). Modern Pediatrics. Ukraine. 5(149): 117-124. doi: 10.15574/SP.2025.9(149).117124.
Article received: Mar 12, 2025. Accepted for publication: Sep 10, 2025.

Congenital sucrase-isomaltase deficiency (CSID) is a fermentopathy, the frequency of which reaches 10% among patients with gastrointestinal symptoms. As a result of mutations in the gene responsible for the synthesis of sucrase and isomaltase enzymes, the activity of these enzymes is disrupted, which leads to a violation of the breakdown of sucrose and starch in the lumen of the small intestine. The accumulation of undigested carbohydrates in the intestines is the cause of osmotic diarrhea, and their fermentation by colon bacteria leads to the release of large amounts of hydrogen and other gases, which is accompanied by significant bloating and flatulence. The main methods for diagnosing pathology are breath tests and genetic studies, and the main approaches in management are replacement therapy with sucrosidase and diet therapy with the exclusion of food sources of sucrose and starch.
Aim – to highlight the current knowledge about CSID and the possibility of differential diagnosis of this pathology based on a clinical case.
The article presents a clinical case of a 5-year-old child who was hospitalized with symptoms of abdominal discomfort, flatulence, bloating, watery diarrhea, impaired physical and psychomotor development, thrombocytopenia and a decrease in pancreatic elastase-1. In the process of examining the child (analysis of complaints and anamnestic data, physical and laboratory-instrumental examination, genetic testing), the diagnosis of CSID was verified. Against the background of the prescribed diet therapy, the general condition of the patient improved, the growth rate normalized and the weight index improved significantly, the gastrointestinal symptoms disappeared, the frequency and consistency of stools, as well as the index of pancreatic elastase-1, were normalized.
Conclusions. CSID is enzymopathy that occurs in 10% of patients with gastrointestinal symptoms. Due to the similarity of its typical clinical manifestations to the symptoms of a number of other pathological conditions, such as irritable bowel syndrome, inflammatory bowel disease, small intestine bacterial overgrowth syndrome, gluten-dependent diseases, as well as other enzymopathies, its diagnosis is often difficult and untimely. Awareness of pediatricians, gastroenterologists and family doctors in features of the course of the disease, instrumental diagnosis, differential diagnosis and management of CSID are the key to timely diagnosis and successful treatment of such patients.
The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors.
Keywords: children, enzymopathy, congenital sucrase-isomaltase deficiency, malabsorption, osmotic diarrhea, bloating, flatulence, sucrosidase.

REFERENCES

1. Broekaert IJ, Borrelli O, Dolinsek J et al. (2022). An ESPGHAN position paper on the use of breath testing in paediatric gastroenterology. J Pediatr Gastroenterol Nutr. 74: 123‐137. https://doi.org/10.1097/MPG.0000000000003245; PMid:34292218

2. Chumpitazi BP, Lewis J, Cooper D et al. (2020). Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 15(5): e0231891. https://doi.org/10.1371/journal.pone.0231891; PMid:32433684 PMCid:PMC7239456

3. Cohen SA. (2016). The clinical consequences of sucrase-isomaltase deficiency. Mol Cell Pediatr. 3(1): 5. https://doi.org/10.1186/s40348-015-0028-0; PMid:26857124 PMCid:PMC4746203

4. Cohen SA, Oloyede H. (2018, Jan). Variable Use of Disaccharidase Assays When Evaluating Abdominal Pain. Gastroenterol Hepatol (N Y). 14(1): 26-32. PMID: 29491758; PMCID: PMC5824592.

5. CSIDCares. (2023, May 19). Choosing your foods. URL: https://www.csidcares.org/treatment/diet/.

6. Daileda T, Baek P, Sutter ME, Thakkar K. (2016). Disaccharidase activity in children undergoing esophagogastroduodenoscopy: a systematic review. World J Gastrointest Pharmacol Ther. 7(2): 283-293. https://doi.org/10.4292/wjgpt.v7.i2.283; PMid:27158545 PMCid:PMC4848252

7. Danialifar TF, Chumpitazi BP, Mehta DI, Di Lorenzo C. (2024, Apr). Genetic and acquired sucrase-isomaltase deficiency: A clinical review. J Pediatr Gastroenterol Nutr. 78(4): 774-782. Epub 2024 Feb 8. https://doi.org/10.1002/jpn3.12151; PMid:38327254

8. Deb C, Campion S, Derrick V, Ruiz V, Abomoelak B, Avdella A et al. (2021, Jan 1). Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders. J Pediatr Gastroenterol Nutr. 72(1): 29-35. https://doi.org/10.1097/MPG.0000000000002852; PMid:32732636

9. Garcia-Etxebarria K, Zheng T, Bonfiglio F et al. (2018). Increased prevalence of rare sucrase-isomaltase pathogenic variants in irritable bowel syndrome patients. Clin Gastroenterol Hepatol. 16(10): 1673-1676. https://doi.org/10.1016/j.cgh.2018.01.047; PMid:29408290 PMCid:PMC6103908

10. Gudmand-Høyer E, Fenger HJ, Kern-Hansen P, Madsen PR. (1987). Sucrase deficiency in Greenland. Incidence and genetic aspects. Scand J Gastroenterol. 22(1): 24-28. https://doi.org/10.3109/00365528708991851; PMid:3563408

11. Heitlinger LA, Rossi TM, Lee P, Lebenthal E. (1991). Human intestinal disaccharidase activities: correlations with age, biopsy technique, and degree of villus atrophy. J Pediatr Gastroenterol Nutr. 12: 204‐208. https://doi.org/10.1002/j.1536-4801.1991.tb10219.x; PMid:1904933

12. Henström M, Diekmann L, Bonfiglio F et al. (2018). Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut. 67(2): 263-270. https://doi.org/10.1136/gutjnl-2016-312456; PMid:27872184 PMCid:PMC5563477

13. He Z, Bolling L, Tonb D, Nadal T, Mehta DI. (2006). An automated method for the determination of intestinal disaccharidase and glucoamylase activities. J Autom Methods Manag Chem. 2006: 93947. https://doi.org/10.1155/JAMMC/2006/93947; PMid:17671629 PMCid:PMC1903450

14. Irlayıcı Fİ, Özbaş H, Salman H, Akçam M. (2024, Dec). Frequency of Congenital Sucrase-Isomaltase Deficiency by Whole Exome Sequencing: Is It Really Rare?. J Pediatr Res. 11(4): 225-231. https://doi.org/10.4274/jpr.galenos.2024.65625

15. Kim SB, Calmet FH, Garrido J, Garcia-Buitrago MT, Moshiree B. (2020). Sucrase-isomaltase deficiency as a potential masquerader in irritable bowel syndrome. Dig Dis Sci. 65(2): 534-540. https://doi.org/10.1007/s10620-019-05780-7; PMid:31493040

16. Lenhart A, Chey WD, Eswaran S. (2021). Sucrase‐isomaltase deficiency: hiding in plain sight. Curr Treat Options Gastroenterol. 19: 500‐508. https://doi.org/10.1007/s11938-021-00357-8

17. Marcadier JL, Boland M, Scott CR, Issa K, Wu Z, McIntyre AD et al. (2015, Feb 3). Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. CMAJ. 187(2): 102-107. Epub 2014 Dec 1. https://doi.org/10.1503/cmaj.140657; PMid:25452324 PMCid:PMC4312148

18. McMeans AR. (2012). Congenital sucrase‐isomaltase deficiency. J Pediatr Gastroenterol Nutr. 55: S37‐S39. https://doi.org/10.1097/01.mpg.0000421410.72880.ae

19. Nichols BL, Baker SS, Quezada-Calvillo R. (2018, Jun). Metabolic Impacts of Maltase Deficiencies. J Pediatr Gastroenterol Nutr. 66; Suppl 3: S24-S29. PMID: 29762372. https://doi.org/10.1097/MPG.0000000000001955

20. Nichols BL Jr, Adams B, Roach CM, Ma CX, Baker SS. (2012). Frequency of sucrase deficiency in mucosal biopsies. J Pediatr Gastroenterol Nutr. 55; suppl 2: S28-S30. https://doi.org/10.1097/01.mpg.0000421405.42386.64; PMCid:PMC4277877

21. Peterson ML, Herber R. (1967). Intestinal sucrase deficiency. Trans Assoc Am Physicians. 80: 275-283.

22. Puertolas MV, Fifi AC. (2018). The role of disaccharidase deficiencies in functional abdominal pain disorders – a narrative review. Nutrients. 10(12): 1835. https://doi.org/10.3390/nu10121835; PMid:30501067 PMCid:PMC6315563

23. Robayo‐Torres CC, Opekun AR, Quezada‐Calvillo R et al. (2009). 13C‐breath tests for sucrose digestion in congenital sucrase isomaltase‐deficient and sacrosidase‐supplemented patients. J Pediatr Gastroenterol Nutr. 48: 412‐418. https://doi.org/10.1097/MPG.0b013e318180cd09; PMid:19330928 PMCid:PMC3955999

24. Simmer S, Chey WD, Eswaran SL, Ranagan J, Petrucelli S. (2018). Is sucrase-isomaltase deficiency an under-recognized cause of IBS-D symptoms? [abstract Mo1966]. Gastroenterology. 154(6); suppl 1: S-867. https://doi.org/10.1016/S0016-5085(18)32930-5

25. Тreem WR. (2012). Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 55; suppl 2: S7-S13. https://doi.org/10.1097/01.mpg.0000421401.57633.90

26. Treem WR, Douglas M, Duong S et al. (2009). Congential sucrase‐isomaltase deficiency (CSID) in the era of sucraid. J Pedatr Gastroenterol Nutr. 53: E85.

27. Treem WR, McAdams L, Stanford L, Kastoff G, Justinich C, Hyams J. (1999). Sacrosidase therapy for congenital sucrase‐isomaltase deficiency. J Pediatr Gastroenterol Nutr. 28: 137‐142. https://doi.org/10.1002/j.1536-4801.1999.tb02026.x; PMid:9932843

28. Welsh JD, Poley JR, Bhatia M, Stevenson DE. (1978). Intestinal disaccharidase activities in relation to age, race, and mucosal damage. Gastroenterology. 75(5): 847-855. https://doi.org/10.1016/0016-5085(78)90468-7; PMid:100368