Cureus. 2021 Apr 7;13(4):e14349. doi: 10.7759/cureus.14349.

Varsha Chiruvella ¹, Ayesha Cheema ¹, Hafiz Muhammad Sharjeel Arshad ², Jacqueline T Chan ³, John Erikson L Yap ²

Author information

• ¹Internal Medicine, Medical College of Georgia at Augusta University, Augusta, USA.
• ²Gastroenterology and Hepatology, Medical College of Georgia at Augusta University, Augusta, USA.
• ³Pediatric Endocrinology, Medical College of Georgia at Augusta University, Augusta, USA.

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.