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Related Experiment Video

Updated: Nov 6, 2025

Measuring Lactase Enzymatic Activity in the Teaching Lab
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Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.

Varsha Chiruvella1, Ayesha Cheema1, Hafiz Muhammad Sharjeel Arshad2

  • 1Internal Medicine, Medical College of Georgia at Augusta University, Augusta, USA.

Cureus
|May 11, 2021
PubMed
Summary

Congenital sucrase isomaltase deficiency (CSID) is a genetic disorder causing nutrient malabsorption from starch and sucrose. This case highlights a 50-year-old woman with persistent bloating, emphasizing the diagnostic challenges of CSID.

Keywords:
disaccharidase assayhydrogen breath testibsstarch intolerancesucrase-isomaltase

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Area of Science:

  • Gastroenterology
  • Genetics
  • Nutritional Science

Background:

  • Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder impacting nutrient absorption.
  • It results in chronic intestinal malabsorption of starch and sucrose, leading to failure to thrive and malnutrition.

Observation:

  • Symptoms of CSID typically manifest after consuming fruits, juices, grains, and starches.
  • Diagnosis involves patient history and disaccharidase assays or sucrose hydrogen breath tests.
  • Nonspecific symptoms often lead to delayed diagnosis, sometimes for many years.

Findings:

  • This report details a case of a 50-year-old woman experiencing persistent bloating.
  • Her symptoms persisted despite extensive evaluation and treatment, suggesting a potential undiagnosed condition.

Implications:

  • The case underscores the importance of considering CSID in adults with chronic gastrointestinal symptoms.
  • Increased awareness and diagnostic vigilance for CSID are crucial for timely intervention.
  • Early diagnosis and management of CSID can prevent long-term malnutrition and improve patient outcomes.