Sacrosidase 8,500units/ml oral solution

Genetic sucrase-isomaltase deficiency (GSID) is an inherited deficiency in the ability to digest sucrose and potentially starch due to mutations in the sucrase-isomaltase (SI) gene. Congenital sucrase-isomaltase deficiency is historically considered to be a rare condition affecting infants with chronic diarrhea as exposure to dietary sucrose begins. Growing evidence suggests that individuals with SI variants may present later in life, with symptoms overlapping with those of irritable bowel syndrome. The presence of SI genetic variants may, either alone or in combination, affect enzyme activity and lead to symptoms of different severity. As such, a more appropriate term for this inherited condition is GSID, with a recognition of a spectrum of severity and onset of presentation. Currently, disaccharidase assay on duodenal mucosal tissue homogenates is the gold standard in diagnosing SI deficiency. A deficiency in the SI enzyme can be present at birth (genetic) or acquired later, often in association with damage to the enteric brush-border membrane. Other noninvasive diagnostic alternatives such as sucrose breath tests may be useful but require further validation. Management of GSID is based on sucrose and potentially starch restriction tailored to the individual patients' tolerance and symptoms. As this approach may be challenging, additional treatment with commercially available sacrosidase is available. However, some patients may require continued starch restriction. Further research is needed to clarify the true prevalence of SI deficiency, the pathobiology of single SI heterozygous mutations, and to define optimal diagnostic and treatment algorithms in the pediatric population.

Abstract licence: CC BY-NC-ND

PurposeThe sucrase-isomaltase (SI) gene encodes sucrase-isomaltase enzyme found on the intestinal brush-border that has a major function in the hydrolysis of sucrose, oligosaccharides, and starch. Mutations disrupting its function cause genetic sucrase-isomaltase deficiency (GSID). Variants leading to mild to moderate reductions in enzyme activity may mimic disorders of gut-brain interaction (DGBI), and differentiating the etiology is crucial for initiating appropriate treatment. In this study, we aim to determine the rate of GSID in individuals who underwent whole exome or clinical exome sequencing (WES/CES) for indications other than chronic gastrointestinal symptoms in a single-center cohort. We also focused on a second group, the pediatric DGBI patients, who underwent SI gene analysis, to evaluate the rate of GSID in pediatric DGBI patients and assess the clinical utility of SI gene testing in GSID diagnosis.MethodsWe retrospectively reviewed 980 patients who underwent WES/CES between 2017-2022, and 148 pediatric patients with DGBI evaluated between May 2021 and August 2022 who received SI gene analysis.ResultsThe frequency of symptomatic GSID was found to be 0.3% among patients who underwent WES/CES, whereas it was 10% among pediatric DGBI patients. In DGBI patients carrying SI gene mutations, clinical improvement with a sucrose- and starch-free diet in combination with a sacrosidase response proved effective for establishing a diagnosis in all cases.ConclusionGSID has been frequently detected among pediatric DGBI patients. SI gene analysis combined with a sucrose-restricted diet and a sacrosidase challenge provides a reliable, non-invasive approach for definitive diagnosis.

Abstract licence: CC BY

Background: Congenital sucrase-isomaltase deficiency (CSID) may mimic functional gastrointestinal disorders (FGIDs) and is likely underrecognized in pediatric practice. This study aimed to determine the frequency of sucrase-isomaltase (SI) gene variants among children with FGIDs and to evaluate genotype-phenotype associations and treatment-related quality-of-life outcomes. Methods: In this prospective cross-sectional study, children aged 0-18 years diagnosed with FGIDs according to Rome IV criteria were enrolled between May 2022 and January 2023. All patients underwent next-generation sequencing for SI gene variants. Clinical characteristics, FGID subtypes, and anthropometric data were recorded. Variant-positive patients received dietary sucrose restriction, and selected patients were treated with sacrosidase enzyme replacement. Symptom severity was assessed using the Numeric Rating Scale, and quality of life was evaluated with the Pediatric Quality of Life Inventory (PedsQL 4.0). Results: Among 290 children with FGIDs, SI gene variants were identified in 17 patients (5.9%). Variants were more frequently detected in children with irritable bowel syndrome-like symptoms. Clinical presentation was heterogeneous, and no consistent genotype-phenotype correlation was observed. Dietary intervention was associated with symptom improvement in compliant patients, while sacrosidase therapy led to significant improvements in both child- and parent-reported PedsQL scores. Conclusions: Sucrase-isomaltase deficiency is not uncommon among children with FGIDs and should be considered, particularly in those with IBS-like symptoms or diet-related complaints. Integrating genetic evaluation with targeted dietary and enzyme-based therapy may improve symptom control and quality of life in selected pediatric patients.

Abstract licence: CC BY

PurposeDisaccharidase deficiencies, including sucrase-isomaltase deficiency, can cause chronic gastrointestinal symptoms in children. While duodenal biopsies remain the diagnostic gold standard, results may be confounded by specimen handling variability or secondary mucosal injury. The noninvasive 13C sucrose breath test (13CSBT) accurately detects sucrase deficiency, including congenital sucrase-isomaltase deficiency (CSID), while the Trio-Smart® breath test (BT) identifies small intestinal bacterial overgrowth (SIBO), a potential cause of secondary enzyme deficiency.MethodsWe conducted a retrospective review of 25 pediatric patients with disaccharidase deficiencies on duodenal biopsy and normal villous architecture. Patients underwent 13CSBT and/or Trio-Smart® BT to evaluate for true CSID or SIBO. Clinical outcomes and treatment responses were assessed.ResultsOf 21 patients with low sucrase activities who completed 13CSBT, only 7 (33.3%) had abnormal results consistent with CSID. Six patients received sacrosidase, with three reporting symptom improvement. Of 15 patients who underwent Trio-Smart® breath testing, 9 (60.0%) had abnormal results suggestive of SIBO and responded to antimicrobial treatment. Two patients had abnormal results on both tests. Interestingly, low palatinase levels were associated with abnormal 13CSBT in some cases, though not consistently.ConclusionBiopsy-based diagnosis may overestimate true CSID due to secondary causes or technical artifacts. Combined use of the 13CSBT and Trio-Smart® BT provides a noninvasive strategy to help distinguish primary or secondary sucrase deficiency, improving diagnostic accuracy and avoiding unnecessary lifelong enzyme therapy. We propose a diagnostic algorithm that integrates biopsy and BT results to guide evaluation and reduce misclassification of CSID.

Abstract licence: CC BY-NC

Abstract Introduction: Abdominal pain, nausea, and diarrhea are common symptoms in individuals with congenital sucrase-isomaltase deficiency (CSID) and are often misdiagnosed as irritable bowel syndrome (IBS). While research on CSID prevalence is limited, there is even less data available specifically concerning children diagnosed with IBS. This study aims to explore the prevalence and clinical characteristics of CSID in patients diagnosed with IBS. Methods Patients diagnosed with IBS according to the Rome IV criteria were included in the study. Genetic analysis was performed to identify CSID-related gene mutations in all enrolled patients. Nutritional guidance based on the FODMAP diet was provided to all participants. Results A total of 70 patients (33 females, 37 males) diagnosed with IBS, with a mean age of 9.8 ± 4.6 years, were included in the study. Among these patients, 87.1% reported recurrent abdominal pain, and 54.3% experienced diarrhea. The average duration of symptoms before seeking medical attention was 54.3 ± 53.1 months. Approximately 50% of the patients were following a diet that included processed convenience foods. Notably, 30% of the patients experienced symptom improvement through dietary interventions. Three patients were identified with CSID gene mutations. The strict sucrose-isomaltase restriction for all three patients was alleviated by adding sacrosidase to their meals. Conclusions The prevalence of CSID in patients diagnosed with IBS was found to be 4.28%, consistent with existing literature. These findings highlight the importance of considering CSID in cases of IBS that do not respond to conventional treatment methods and lifestyle modifications.

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SSDXA-14 is a Phase 2 (feasibility/pilot) double-blind, placebo-controlled, crossover study to evaluate the efficacy and safety of sacrosidase and placebo in 25 subjects objectively diagnosed with fructan intolerance. Conditions: Fructan Intolerance. Interventions: Sacrosidase Oral Solution, Placebo.

Source: ClinicalTrials.gov (public domain)