Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Adult type lactose intolerance

Lactase persistence is an autosomal dominant condition characterized by the persistance to cleave lactose in the small intestine. In most people however the activity of the enzyme declines with age, which may result in irritable colon, symptoms diarrhea, gas bloat, flatulence, and abdominal pain. Responsible are polymorphisms located in the MCM6 gene that regulate transcription of the enzyme.

Symptoms

Diarrhea
In patients with adult type lactose intolerance, diarrhea after the ingestion of milk and other lactose containing products becomes apparent with increasing age.

Systematic

Food intolerance
Adult type lactose intolerance
LCT
MCM6
Eosinophil peroxidase deficiency
Fructose intolerance
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
Lysinuric protein intolerance
Mast cell activation syndrome
Sitosterolemia
Trehalase deficiency

References:

1.

Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.

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2.

Olds LC et al. (2003) Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

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3.

Bersaglieri T et al. (2004) Genetic signatures of strong recent positive selection at the lactase gene.

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4.

Coelho M et al. (2005) Microsatellite variation and evolution of human lactase persistence.

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5.

Campbell CD et al. (2005) Demonstrating stratification in a European American population.

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6.

Lewinsky RH et al. (2005) T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

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7.

Ingram CJ et al. (2007) A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?

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8.

Tishkoff SA et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.

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9.

Enattah NS et al. (2007) Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.

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10.

Enattah NS et al. (2008) Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.

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11.

Hollox EJ et al. (2001) Lactase haplotype diversity in the Old World.

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12.

Harvey CB et al. (1995) DNA polymorphisms in the lactase gene. Linkage disequilibrium across the 70-kb region.

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13.

Harvey CB et al. (1998) Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism.

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14.

Lisker R et al. (1975) Recessive inheritance of the adult type of intestinal lactase deficiency.

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15.

Bayless TM et al. (1975) Lactose and milk intolerance: clinical implications.

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16.

CUATRECASAS P et al. (1965) LACTASE DEFICIENCY IN THE ADULT. A COMMON OCCURRENCE.

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17.

HAEMMERLI UP et al. (1965) ACQUIRED MILK INTOLERANCE IN THE ADULT CAUSED BY LACTOSE MALABSORPTION DUE TO A SELECTIVE DEFICIENCY OF INTESTINAL LACTASE ACTIVITY.

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18.

Escher JC et al. (1992) Molecular basis of lactase levels in adult humans.

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19.

Montgomery RK et al. (1991) Lactose intolerance and the genetic regulation of intestinal lactase-phlorizin hydrolase.

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20.

Witte J et al. (1990) The biosynthetic basis of adult lactase deficiency.

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21.

Sebastio G et al. (1989) Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats.

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22.

Freund JN et al. (1989) Discrepancy between the intestinal lactase enzymatic activity and mRNA accumulation in sucklings and adults. Effect of starvation and thyroxine treatment.

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23.

Simoons FJ et al. (1978) The geographic hypothesis and lactose malabsorption. A weighing of the evidence.

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24.

Potter J et al. (1985) Human lactase and the molecular basis of lactase persistence.

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25.

Flatz G et al. (1973) Lactose nutrition and natural selection.

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26.

Sahi T et al. (1973) Recessive inheritance of adult-type lactose malabsorption.

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27.

Ferguson A et al. (1967) Genetic aetiology of lactose intolerance.

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28.

Gilat T et al. (1973) Genetics of primary adult lactase deficiency.

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29.

Metz G et al. (1975) Breath hydrogen as a diagnostic method for hypolactasia.

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30.

Kretchmer N et al. (1971) Lactose and lactase--a historical perspective.

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31.

Welsh JD et al. (1970) Isolated lactase deficiency in humans: report on 100 patients.

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32.

Jussila J et al. (1970) Prevalence of lactose malabsorption in a Finnish rural population.

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33.

Bryant GD et al. (1970) Incidence and aetiology of lactose intolerance.

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34.

Gilat T et al. (1970) Lactase deficiency in Jewish communities in Israel.

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35.

Baer D et al. (1970) Lactase deficiency and yogurt.

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36.

Huang SS et al. (1968) Milk and lactose intolerance in healthy Orientals.

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37.

Newcomer AD et al. (1977) Lactase deficiency: a common genetic trait of the American Indian.

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38.

Gray GM et al. (1969) Intestinal beta-galactosidases. II. Biochemical alteration in human lactase deficiency.

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39.

Friedland N et al. (1965) "Normal" lactose tolerance test.

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40.

Bayless TM et al. (1966) A racial difference in incidence of lactase deficiency. A survey of milk intolerance and lactase deficiency in healthy adult males.

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41.

Cook GC et al. (1967) Lactase activity in newborn and infant Baganda.

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42.

Huang SS et al. (1967) Lactose intolerance in healthy children.

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43.

Kolars JC et al. (1984) Yogurt--an autodigesting source of lactose.

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44.

Rosado JL et al. (1984) Enzyme replacement therapy for primary adult lactase deficiency. Effective reduction of lactose malabsorption and milk intolerance by direct addition of beta-galactosidase to milk at mealtime.

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45.

Sahi T et al. (1983) Hypolactasia in a fixed cohort of young Finnish adults. A follow-up study.

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46.

Howell JN et al. (1981) Population screening for the human adult lactase phenotypes with a multiple breath version of the breath hydrogen test.

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47.

Ho MW et al. (1982) Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples.

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48.

Flatz G et al. (1982) Distribution of physiological adult lactase phenotypes, lactose absorber and malabsorber, in Germany.

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49.

Wang Y et al. (1995) The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element.

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50.

Holden C et al. (1997) Phylogenetic analysis of the evolution of lactose digestion in adults.

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51.

Lee MF et al. (1998) Human adult-onset lactase decline: an update.

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52.

Wang Y et al. (1998) The genetically programmed down-regulation of lactase in children.

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53.

Rahimi AG et al. (1976) Persistence of high intestinal lactase activity (lactose tolerance) in Afghanistan.

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Update: Sept. 26, 2018