Disaccharidase deficiencies are reportedly underdiagnosed in pediatric populations. Though typically thought to cause diarrheal disease, they can also be a cause of abdominal pain and dyspepsia, and patients diagnosed with these functional disorders may actually have associated enzyme deficiencies. While the effects of lactose deficiency have been widely studied, sucrase, maltase, and isomaltase are less frequently considered when approaching a patient with an apparent functional abdominal pain disorder. This review seeks to provide an up-to-date narrative on the current scientific literature on the possible role of sucrase, maltase, and isomaltase deficiency in pediatric functional gastrointestinal disorders.

Currently, predictive markers for the development and course of inflammatory bowel diseases (IBD) are not available. This study supports the notion that gut microbiome metagenomic profiles could be developed into a useful tool to assess risk and manage human IBD.

Irritable bowel syndrome (IBS) is a highly prevalent functional gastrointestinal disorder whose etiology is yet to be completely understood. It classically presents with non-specific symptoms such as abdominal pain and diarrhea. There is significant overlap between these symptoms and those observed in patients with disaccharidase deficiencies. Despite the appreciable literature available on the effects of lactase deficiency in IBS, some of which will be reviewed below, deficiencies of the other disaccharidases, such as sucrase, maltase, and isomaltase, are less commonly considered in patients presenting with symptoms resembling IBS. Multiple treatment modalities have been proposed; however, the lack of consistency in treatment, as well as the absence of a more meticulous diagnostic tool, has made both disorders difficult to distinguish. The objective of this review is to evaluate and summarize the current scientific literature on the possible role of disaccharidase deficiencies on the pathophysiology of IBS symptoms and what implications this has for management.