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.

Nutrients
|December 2, 2018
PubMed

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.

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