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Sucrase-Isomaltase Deficiency: Hiding in Plain Sight?

  • Nutrition and Obesity (O Pickett-Blakely, Section Editor)
  • Published:
Current Treatment Options in Gastroenterology Aims and scope Submit manuscript

Abstract

Purpose of review

Our review focuses on the various presentations, diagnosis, and treatment of sucrose–isomaltase deficiency (SID), previously thought to be limited to the pediatric population with severe malabsorptive symptoms.

Recent findings

Although sucrase–isomaltase deficiency is presumed to be a rare disorder, it is likely under recognized and more prevalent than is currently known. Congenital sucrase–isomaltase deficiency usually manifests early in life, but the phenotype may vary depending on the mutation(s) present.

Summary

SID is characterized by dysfunction of the brush border enzyme, sucrase–isomaltase, with a subsequent inability to successfully digest sucrose and starch. This disorder can be further characterized as either a genetic (genetic/congenital sucrase–isomaltase deficiency) or a secondary condition. Sucrase–isomaltase deficiency can result in various clinical symptoms, ranging from mild bloating/flatulence to severe osmotic diarrhea with malabsorption. SID has been associated with irritable bowel syndrome, and further research is needed to further characterize this relationship.

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Authors and Affiliations

  1. Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

    Adrienne Lenhart MD

  2. Division of Gastroenterology, University of Michigan Health System, 3912 Taubman Center, SPC 5362, Ann Arbor, MI, 48109-5362, USA

    William D. Chey MD & Shanti Eswaran MD

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  1. Adrienne Lenhart MD
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Correspondence to Shanti Eswaran MD.

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Adrienne Lenhart declares no conflict of interest. Shanti Eswaran reports grants from QOL Medical outside the submitted work. William Chey reports personal fees from QOL Medical outside the submitted work.

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Lenhart, A., Chey, W.D. & Eswaran, S. Sucrase-Isomaltase Deficiency: Hiding in Plain Sight?. Curr Treat Options Gastro 19, 500–508 (2021). https://doi.org/10.1007/s11938-021-00357-8

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