Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations

Irlayıcı F. İ., GÜVEN B., ÇAKIR M.

Turkish Journal of Gastroenterology, vol.35, no.4, pp.343-349, 2024 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 4
  • Publication Date: 2024
  • Doi Number: 10.5152/tjg.2024.23250
  • Journal Name: Turkish Journal of Gastroenterology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, MEDLINE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.343-349
  • Keywords: chronic diarrhea, Congenital sucrase-isomaltase deficiency, sacrosidase
  • Karadeniz Technical University Affiliated: Yes


Background/Aims: Congenital sucrase-isomaltase deficiency is an autosomal recessive inherited disaccharidase deficiency characterized by chronic osmotic diarrhea. In this study, the genotype-phenotype relationships of close relatives of an index case with congenital sucrase-isomaltase deficiency were investigated. Materials and Methods: A 23-month-old female patient with a sucrase-isomaltase gene c.317G>A (p.C106Y) homozygous mutation was diagnosed as an index case and her pedigree analysis was performed subsequently. The family members with and without sucrase-isomaltase gene mutations were compared in terms of clinical symptoms. Results: The study included 109 cases [mean age ± SD: 22.6 ± 17.2 years (0.1-75 years), 61 males (56%)] of 130 family members of the index case. Sucrase-isomaltase gene c.317G>A (p.C106Y) heterozygous mutation was detected in 27 cases (24.7%); 14 (51.9%) were male and had a mean age of 23.2 ± 18.3 years. The most common complaints of 12 (44.4%) symptomatic patients with mutations were abdominal pain (37%), gas irritability (33.3%), bloating (22.2%), and foul-smelling stools (18.5%). Compared with the cases without mutation, a statistically significant difference was observed in the incidence of gas irritability, foul-smelling stool, ≥2 gastrointestinal symptoms, postprandial complaints, and food allergy (P = .005, P = .047, P = .049, P = .017, P = .021, respectively). Sacrosidase enzyme replacement was applied to 7 patients whose symptoms did not improve with dietary elimination. Clinical response was obtained after enzyme treatment. Conclusion: Despite its autosomal recessive inheritance, congenital sucrase-isomaltase deficiency can also be symptomatic in heterozygous individuals. Further studies are required to clarify the genotype-phenotype relationship and management of the disease.