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The Role of Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A Narrative Review
Mora V Puertolas1, Amanda C Fifi2
1Department of Pediatrics, Holtz Children's Hospital, University of Miami Miller School of Medicine/Jackson Memorial Medical Center, 1611 NW 12th Ave, Miami, FL 33136, USA. mora.puertolaslopez@jhsmiami.org.
Insights
Disaccharidase deficiencies, including sucrase, maltase, and isomaltase, are often missed in children with functional abdominal pain. These enzyme deficiencies can cause digestive issues beyond diarrhea, impacting diagnosis and treatment.
Area of Science:
- Pediatric Gastroenterology
- Digestive Health
- Enzyme Deficiencies
Background:
- Disaccharidase deficiencies are underdiagnosed in children.
- These conditions are often misdiagnosed as functional abdominal pain disorders.
- Lactose deficiency is well-studied, but sucrase, maltase, and isomaltase deficiencies are less recognized.
Purpose of the Study:
- To review the current literature on sucrase, maltase, and isomaltase deficiencies.
- To explore the role of these deficiencies in pediatric functional gastrointestinal disorders.
- To raise awareness of these underdiagnosed conditions.
Main Methods:
- Narrative review of scientific literature.
- Analysis of studies on disaccharidase deficiencies in pediatric populations.
- Synthesis of information on functional abdominal pain and enzyme deficiencies.
Main Results:
- Disaccharidase deficiencies can present with abdominal pain and dyspepsia, not just diarrhea.
- Patients with functional abdominal pain may have undiagnosed sucrase, maltase, or isomaltase deficiencies.
- These enzyme deficiencies are significant contributors to pediatric functional gastrointestinal disorders.
Conclusions:
- Increased clinical suspicion for sucrase, maltase, and isomaltase deficiencies is warranted in pediatric functional gastrointestinal disorders.
- Diagnosing these enzyme deficiencies can lead to improved patient outcomes.
- Further research is needed to fully understand the prevalence and impact of these deficiencies.
Abstract:
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.
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