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Related Experiment Video

Updated: Jun 22, 2026

Measuring Lactase Enzymatic Activity in the Teaching Lab
04:41

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Published on: August 6, 2018

Lactose intolerance: a non-allergic disorder often managed by allergologists.

A Perino1, S Cabras, D Obinu

  • 1Ospedale S. Luigi, Unversità degli Studi di Torino.

European Annals of Allergy and Clinical Immunology
|June 6, 2009
PubMed
Summary

Lactose malabsorption, common due to lactase deficiency, causes digestive issues. Genetic factors and dairy history influence lactose persistence, with diagnosis via breath or genetic tests.

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Area of Science:

  • Genetics
  • Gastroenterology
  • Human Biology

Background:

  • Lactose malabsorption stems from intestinal lactase deficiency, affecting most global populations.
  • Primary lactose malabsorption is inherited; secondary forms arise from intestinal diseases.
  • Malabsorbed lactose in the colon causes gastrointestinal symptoms, termed lactose intolerance.

Purpose of the Study:

  • To explore the genetic basis of lactase persistence and non-persistence.
  • To review diagnostic methods for lactose malabsorption and intolerance.
  • To evaluate current and alternative management strategies for lactose intolerance.

Main Methods:

  • Review of scientific literature on lactose malabsorption and intolerance.
  • Analysis of genetic factors (SNPs) associated with lactase persistence.
  • Examination of diagnostic techniques like hydrogen breath tests and genetic testing.

Main Results:

  • Lactase non-persistence is ancestral; lactase persistence is linked to specific SNPs (C/T 13910, G/A 22018) and agricultural history.
  • Diagnosis involves clinical assessment, dietary lactose elimination, hydrogen breath tests, and genetic tests.
  • Current treatment often involves dairy exclusion, potentially causing nutritional deficits.

Conclusions:

  • Lactase persistence is a Mendelian dominant trait influenced by population dairy history.
  • Effective diagnosis relies on non-invasive tests.
  • Alternative treatments like enzyme supplements, probiotics, and dietary adaptation strategies are being explored to mitigate nutritional disadvantages of dairy exclusion.