Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder which leads to chronic intestinal malabsorption of nutrients from ingested starch and sucrose. Symptoms usually present after consumption of fruits, juices, grains, and starches, leading to failure to thrive and malnutrition. Diagnosis is suspected on detailed patient history and confirmed by a disaccharidase assay using small intestinal biopsies or sucrose hydrogen breath test. Treatment of CSID consists of limiting sucrose in diet and replacement therapy with sacrosidase. Due to its nonspecific symptoms, CSID may be undiagnosed in many patients for several years. We present a case of a 50-year-old woman with persistent symptoms of bloating in spite of extensive evaluation and treatment.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105231 | PMC |
| http://dx.doi.org/10.7759/cureus.14349 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Little Patients Big Discoveries: Potential Pediatric to Adult Neurogastroenterology Translation.
Am J Gastroenterol
June 2025
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Pediatric neurogastroenterology conditions, including disorders of gut-brain interaction and motility disorders, affect millions of children worldwide. Owing to limited pediatric data, reference ranges and management are often extrapolated from adult studies. We review 4 pediatric neurogastroenterology areas where clinical science may translate and inform adult gastroenterology.
View Article and Find Full Text PDFDemystifying Carbohydrate Maldigestion: A Clinical Review.
Am J Gastroenterol
April 2025
Private Practice, Medway, Massachusetts, USA.
Carbohydrate intolerance is a poorly understood and potentially overlooked cause of unexplained gastrointestinal symptoms, particularly among patients with disorders of gut-brain interaction. Symptoms related to carbohydrate intolerance arise from bacterial fermentation of unabsorbed carbohydrates leading to increased gases and osmotic load within the gastrointestinal tract. This mechanism is shared across various carbohydrates, including lactose, sucrose, maltose, fructose, and fermentable oligosaccharides, disaccharides, monosaccharides, and polyols.
View Article and Find Full Text PDFInvertase is an effective and cost-efficient alternative to sacrosidase oral solution for sucrase deficiency: a cohort study.
Arch Dis Child
August 2025
Department of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children and Young People, Edinburgh, Edinburgh, UK
Objectives: This study aims to evaluate the effectiveness of invertase as an alternative to sacrosidase solution for treating sucrase deficiency in paediatric patients and assess the prevalence of disaccharidase deficiencies in a tertiary care setting.
Design: A single-centre, retrospective study was conducted at the Royal Hospital for Children, Glasgow. Patients with low disaccharidase enzyme assay results, confirmed by duodenal biopsy and with normal duodenal histology, taken between 01 January 2011 and 31 August 2019, were included.
Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study.
Autism Res
January 2025
Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul University-Cerrahpaşa, İstanbul, Turkey.
Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing.
View Article and Find Full Text PDFRecurrent calcium oxalate calculi: the culprit in disguise.
Pediatr Nephrol
March 2025
Department of Paediatrics, Aster MIMS Hospital, Calicut, Kerala, 673017, India.
Congenital sucrase isomaltase deficiency (CSID) is a rare autosomal recessive monogenic disorder of small intestinal malabsorption and manifests typically in early childhood with chronic osmotic diarrhoea. Though there have been case reports in adults presenting with hypercalcemia and renal calculi in CSID, this is quite rare in children. We hereby report a 6-year-old boy who presented with recurrent episodes of calcium oxalate calculi without any gastrointestinal symptoms and was confirmed as having sucrase isomaltase deficiency by genetic analysis.
View Article and Find Full Text PDF