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Genetics Library / Conditions / Lactose intolerance

CONDITION REFERENCE

Lactose intolerance

Information from MedlinePlus Genetics about this condition and how it can be inherited.

About this condition

Lactose intolerance is a condition that makes it difficult to digest lactose, a sugar found in milk and several other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Lack or loss of lactase has both genetic and non-genetic causes.

Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down the lactose in breast milk or formula. This form of lactose intolerance results in very severe diarrhea. If affected infants are not given a lactose-free infant formula, they may experience severe dehydration and weight loss.

Lactose intolerance in adulthood can be caused by the reduced production of lactase after infancy (lactase nonpersistence). If individuals with lactose intolerance consume lactose-containing dairy products, they may experience abdominal pain, bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours later.

Most people with lactase nonpersistence retain some lactase activity and can include varying amounts of lactose in their diets without experiencing symptoms. Often, affected individuals have difficulty digesting fresh milk but can eat certain dairy products such as cheese or yogurt without discomfort. These foods are made using fermentation processes that break down much of the lactose in milk.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-04-03. Source review: 2023-03.

Inheritance

  • Autosomal dominant
  • Autosomal recessive

A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.

Related genes

MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.

YOUR DNA FILE

What can your DNA file tell you?

Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.

A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.

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Sources and dates

The source information on this page last changed on 2026-09-18.

MedlinePlus Source details

Open source record ↗

Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2025-04-03
Source review: 2023-03

SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a

About the library sources · Latest validated release · Record 9e367bb9449a