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Nonpersistence of intestinal lactase

MedGen UID:
75659
Concept ID:
C0268181
Disease or Syndrome
Synonyms: ADULT LACTASE DEFICIENCY; DISACCHARIDE INTOLERANCE III; HYPOLACTASIA, ADULT TYPE; Lactose intolerance, adult type
SNOMED CT: Ontogenic late onset lactase deficiency (38032004); Non-persistence of intestinal lactase (38032004); Adult lactase deficiency (38032004); Late onset lactase deficiency (38032004); Nonpersistence of intestinal lactase (38032004); Delayed-onset isolated lactase deficiency (38032004); Late-onset lactose intolerance (38032004); Disaccharide intolerance III (38032004); Primary hypolactasia (38032004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): MCM6 (2q21.3)
 
Monarch Initiative: MONDO:0006065
OMIM®: 223100

Definition

In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003). [from OMIM]

Additional description

From MedlinePlus Genetics
Lactose intolerance in adulthood is caused by 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.\n\nMost 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.\n\nCongenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea. If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss.\n\nLactose intolerance is an impaired ability to digest lactose, a sugar found in milk and 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.  https://medlineplus.gov/genetics/condition/lactose-intolerance

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Painful sensation in the abdominal region.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Painful sensation in the abdominal region.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Lactose intolerance
MedGen UID:
6001
Concept ID:
C0022951
Disease or Syndrome
Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.
Flatulence
MedGen UID:
368077
Concept ID:
C1962956
Finding
Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.
Decreased small intestinal mucosa lactase activity
MedGen UID:
1390950
Concept ID:
C4476604
Finding
Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.
Decreased small intestinal mucosa lactase activity
MedGen UID:
1390950
Concept ID:
C4476604
Finding
Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.

Recent clinical studies

Etiology

Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, Hirschhorn JN
J Pediatr Gastroenterol Nutr 2015 Feb;60(2):182-91. doi: 10.1097/MPG.0000000000000595. PMID: 25625576Free PMC Article
Ibba I, Gilli A, Boi MF, Usai P
Biomed Res Int 2014;2014:680196. Epub 2014 May 25 doi: 10.1155/2014/680196. PMID: 24967391Free PMC Article
Fang L, Ahn JK, Wodziak D, Sibley E
Hum Genet 2012 Jul;131(7):1153-9. Epub 2012 Jan 19 doi: 10.1007/s00439-012-1140-z. PMID: 22258180Free PMC Article
Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ
J Pediatr Gastroenterol Nutr 2007 Dec;45 Suppl 2:S131-7. doi: 10.1097/MPG.0b013e31812e68f6. PMID: 18185074
Torniainen S, Hedelin M, Autio V, Rasinperä H, Bälter KA, Klint A, Bellocco R, Wiklund F, Stattin P, Ikonen T, Tammela TL, Schleutker J, Grönberg H, Järvelä I
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):956-61. doi: 10.1158/1055-9965.EPI-06-0985. PMID: 17507622

Diagnosis

Lomer MC, Parkes GC, Sanderson JD
Aliment Pharmacol Ther 2008 Jan 15;27(2):93-103. Epub 2007 Oct 23 doi: 10.1111/j.1365-2036.2007.03557.x. PMID: 17956597
Sibley E
Am J Pharmacogenomics 2004;4(4):239-45. doi: 10.2165/00129785-200404040-00003. PMID: 15287817
Vonk RJ, Stellaard F, Priebe MG, Koetse HA, Hagedoorn RE, De Bruijn S, Elzinga H, Lenoir-Wijnkoop I, Antoine JM
Eur J Clin Invest 2001 Mar;31(3):226-33. doi: 10.1046/j.1365-2362.2001.00791.x. PMID: 11264650
Wang Y, Harvey CB, Hollox EJ, Phillips AD, Poulter M, Clay P, Walker-Smith JA, Swallow DM
Gastroenterology 1998 Jun;114(6):1230-6. doi: 10.1016/s0016-5085(98)70429-9. PMID: 9609760
Olsen WA, Li BU, Lloyd M, Korsmo H
Pediatr Res 1996 May;39(5):877-81. doi: 10.1203/00006450-199605000-00023. PMID: 8726245

Therapy

Ibba I, Gilli A, Boi MF, Usai P
Biomed Res Int 2014;2014:680196. Epub 2014 May 25 doi: 10.1155/2014/680196. PMID: 24967391Free PMC Article
Lomer MC, Parkes GC, Sanderson JD
Aliment Pharmacol Ther 2008 Jan 15;27(2):93-103. Epub 2007 Oct 23 doi: 10.1111/j.1365-2036.2007.03557.x. PMID: 17956597
Torniainen S, Hedelin M, Autio V, Rasinperä H, Bälter KA, Klint A, Bellocco R, Wiklund F, Stattin P, Ikonen T, Tammela TL, Schleutker J, Grönberg H, Järvelä I
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):956-61. doi: 10.1158/1055-9965.EPI-06-0985. PMID: 17507622
Obermayer-Pietsch BM, Bonelli CM, Walter DE, Kuhn RJ, Fahrleitner-Pammer A, Berghold A, Goessler W, Stepan V, Dobnig H, Leb G, Renner W
J Bone Miner Res 2004 Jan;19(1):42-7. doi: 10.1359/JBMR.0301207. PMID: 14753735
Vonk RJ, Stellaard F, Priebe MG, Koetse HA, Hagedoorn RE, De Bruijn S, Elzinga H, Lenoir-Wijnkoop I, Antoine JM
Eur J Clin Invest 2001 Mar;31(3):226-33. doi: 10.1046/j.1365-2362.2001.00791.x. PMID: 11264650

Prognosis

Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, Hirschhorn JN
J Pediatr Gastroenterol Nutr 2015 Feb;60(2):182-91. doi: 10.1097/MPG.0000000000000595. PMID: 25625576Free PMC Article

Clinical prediction guides

Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, Hirschhorn JN
J Pediatr Gastroenterol Nutr 2015 Feb;60(2):182-91. doi: 10.1097/MPG.0000000000000595. PMID: 25625576Free PMC Article
Ibba I, Gilli A, Boi MF, Usai P
Biomed Res Int 2014;2014:680196. Epub 2014 May 25 doi: 10.1155/2014/680196. PMID: 24967391Free PMC Article
Torniainen S, Hedelin M, Autio V, Rasinperä H, Bälter KA, Klint A, Bellocco R, Wiklund F, Stattin P, Ikonen T, Tammela TL, Schleutker J, Grönberg H, Järvelä I
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):956-61. doi: 10.1158/1055-9965.EPI-06-0985. PMID: 17507622
Zhong Y, Priebe MG, Vonk RJ, Huang CY, Antoine JM, He T, Harmsen HJ, Welling GW
Dig Dis Sci 2004 Jan;49(1):78-83. doi: 10.1023/b:ddas.0000011606.96795.40. PMID: 14992439
Olsen WA, Li BU, Lloyd M, Korsmo H
Pediatr Res 1996 May;39(5):877-81. doi: 10.1203/00006450-199605000-00023. PMID: 8726245

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