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Condition report · Nutrition

Lactose Intolerance

A common inherited trait in which the body produces less lactase, the enzyme that digests milk sugar, after early childhood. It is the ancestral human pattern and is not a disease, but it can cause digestive symptoms after eating dairy.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The condition we analyse

Adult-type Lactase Non-persistence

Autosomal recessive

A gradual decline in lactase production after weaning, determined by variants in a regulatory region of the MCM6 gene that controls the LCT gene, which can lead to bloating, gas and diarrhoea after consuming lactose.

What a diagnosis changes

Knowing can help explain symptoms after dairy and guide adjustments such as reducing lactose, choosing lactose-free products or using lactase supplements.

Also known as

adult lactase deficiency; disaccharide intolerance 3; hypolactasia, adult type; lactase persistence/nonpersistence; lactose intolerance, ADULT type

MONDO:0006065OMIM 223100Orphanet 319681MedGen 75659

Limitations

  • The variants that determine lactase persistence lie in a non-coding regulatory region and are classed as common trait variants rather than disease-causing, so standard disease variant screening may not report them. Interpretation also depends on ancestry, as different populations carry different persistence variants.

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