U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Lactose intolerance

MedGen UID:
6001
Concept ID:
C0022951
Disease or Syndrome
Synonyms: Alactasia; Dairy Product Intolerance; Hypolactasia; Intolerance, Lactose; Lactose Intolerance; Lactose Malabsorption; Malabsorption, Lactose; Milk Sugar Intolerance
SNOMED CT: Intolerance to lactose (782415009)
 
HPO: HP:0004789
Monarch Initiative: MONDO:0100345

Definition

An inability to digest lactose. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Lactose intolerance

Conditions with this feature

Congenital lactase deficiency
MedGen UID:
120617
Concept ID:
C0268179
Disease or Syndrome
Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.
Nonpersistence of intestinal lactase
MedGen UID:
75659
Concept ID:
C0268181
Disease or Syndrome
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).
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Catanzaro R, Sciuto M, Marotta F
Nutr Res 2021 May;89:23-34. Epub 2021 Mar 21 doi: 10.1016/j.nutres.2021.02.003. PMID: 33887513
Misselwitz B, Butter M, Verbeke K, Fox MR
Gut 2019 Nov;68(11):2080-2091. Epub 2019 Aug 19 doi: 10.1136/gutjnl-2019-318404. PMID: 31427404Free PMC Article
Szilagyi A, Ishayek N
Nutrients 2018 Dec 15;10(12) doi: 10.3390/nu10121994. PMID: 30558337Free PMC Article

Recent clinical studies

Etiology

Catanzaro R, Sciuto M, Marotta F
Nutr Res 2021 May;89:23-34. Epub 2021 Mar 21 doi: 10.1016/j.nutres.2021.02.003. PMID: 33887513
Leis R, de Castro MJ, de Lamas C, Picáns R, Couce ML
Nutrients 2020 May 20;12(5) doi: 10.3390/nu12051487. PMID: 32443748Free PMC Article
Misselwitz B, Butter M, Verbeke K, Fox MR
Gut 2019 Nov;68(11):2080-2091. Epub 2019 Aug 19 doi: 10.1136/gutjnl-2019-318404. PMID: 31427404Free PMC Article
Hegar B, Widodo A
Asia Pac J Clin Nutr 2015;24 Suppl 1:S31-40. doi: 10.6133/apjcn.2015.24.s1.06. PMID: 26715082
Deng Y, Misselwitz B, Dai N, Fox M
Nutrients 2015 Sep 18;7(9):8020-35. doi: 10.3390/nu7095380. PMID: 26393648Free PMC Article

Diagnosis

Zingone F, Bertin L, Maniero D, Palo M, Lorenzon G, Barberio B, Ciacci C, Savarino EV
Nutrients 2023 Nov 30;15(23) doi: 10.3390/nu15234969. PMID: 38068827Free PMC Article
Toca MDC, Fernández A, Orsi M, Tabacco O, Vinderola G
Arch Argent Pediatr 2022 Feb;120(1):59-66. Epub 2021 Dec 17 doi: 10.5546/aap.2022.eng.59. PMID: 35068123
Catanzaro R, Sciuto M, Marotta F
Nutr Res 2021 May;89:23-34. Epub 2021 Mar 21 doi: 10.1016/j.nutres.2021.02.003. PMID: 33887513
Misselwitz B, Butter M, Verbeke K, Fox MR
Gut 2019 Nov;68(11):2080-2091. Epub 2019 Aug 19 doi: 10.1136/gutjnl-2019-318404. PMID: 31427404Free PMC Article
Di Costanzo M, Berni Canani R
Ann Nutr Metab 2018;73 Suppl 4:30-37. Epub 2019 Feb 19 doi: 10.1159/000493669. PMID: 30783042

Therapy

Catanzaro R, Sciuto M, Marotta F
Nutr Res 2021 May;89:23-34. Epub 2021 Mar 21 doi: 10.1016/j.nutres.2021.02.003. PMID: 33887513
Szilagyi A, Ishayek N
Nutrients 2018 Dec 15;10(12) doi: 10.3390/nu10121994. PMID: 30558337Free PMC Article
Ugidos-Rodríguez S , Matallana-González MC , Sánchez-Mata MC
Food Funct 2018 Aug 15;9(8):4056-4068. doi: 10.1039/c8fo00555a. PMID: 29999504
Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083
Deng Y, Misselwitz B, Dai N, Fox M
Nutrients 2015 Sep 18;7(9):8020-35. doi: 10.3390/nu7095380. PMID: 26393648Free PMC Article

Prognosis

Flom JD, Sicherer SH
Nutrients 2019 May 10;11(5) doi: 10.3390/nu11051051. PMID: 31083388Free PMC Article
Deng Y, Misselwitz B, Dai N, Fox M
Nutrients 2015 Sep 18;7(9):8020-35. doi: 10.3390/nu7095380. PMID: 26393648Free PMC Article
Amiri M, Diekmann L, von Köckritz-Blickwede M, Naim HY
Nutrients 2015 Aug 28;7(9):7209-30. doi: 10.3390/nu7095332. PMID: 26343715Free PMC Article
Di Rienzo T, D'Angelo G, D'Aversa F, Campanale MC, Cesario V, Montalto M, Gasbarrini A, Ojetti V
Eur Rev Med Pharmacol Sci 2013;17 Suppl 2:18-25. PMID: 24443063
Kolodny EH, Cable WJ
Ann Neurol 1982 Mar;11(3):221-32. doi: 10.1002/ana.410110302. PMID: 6807191

Clinical prediction guides

Storhaug CL, Fosse SK, Fadnes LT
Lancet Gastroenterol Hepatol 2017 Oct;2(10):738-746. Epub 2017 Jul 7 doi: 10.1016/S2468-1253(17)30154-1. PMID: 28690131
Pal S, Woodford K, Kukuljan S, Ho S
Nutrients 2015 Aug 31;7(9):7285-97. doi: 10.3390/nu7095339. PMID: 26404362Free PMC Article
Deng Y, Misselwitz B, Dai N, Fox M
Nutrients 2015 Sep 18;7(9):8020-35. doi: 10.3390/nu7095380. PMID: 26393648Free PMC Article
Di Rienzo T, D'Angelo G, D'Aversa F, Campanale MC, Cesario V, Montalto M, Gasbarrini A, Ojetti V
Eur Rev Med Pharmacol Sci 2013;17 Suppl 2:18-25. PMID: 24443063
Wilt TJ, Shaukat A, Shamliyan T, Taylor BC, MacDonald R, Tacklind J, Rutks I, Schwarzenberg SJ, Kane RL, Levitt M
Evid Rep Technol Assess (Full Rep) 2010 Feb;(192):1-410. PMID: 20629478Free PMC Article

Recent systematic reviews

Leis R, de Castro MJ, de Lamas C, Picáns R, Couce ML
Nutrients 2020 May 20;12(5) doi: 10.3390/nu12051487. PMID: 32443748Free PMC Article
Varjú P, Gede N, Szakács Z, Hegyi P, Cazacu IM, Pécsi D, Fábián A, Szepes Z, Vincze Á, Tenk J, Balaskó M, Rumbus Z, Garami A, Csupor D, Czimmer J
Neurogastroenterol Motil 2019 May;31(5):e13527. Epub 2018 Dec 17 doi: 10.1111/nmo.13527. PMID: 30560578Free PMC Article
Oak SJ, Jha R
Crit Rev Food Sci Nutr 2019;59(11):1675-1683. Epub 2018 Feb 9 doi: 10.1080/10408398.2018.1425977. PMID: 29425071
Storhaug CL, Fosse SK, Fadnes LT
Lancet Gastroenterol Hepatol 2017 Oct;2(10):738-746. Epub 2017 Jul 7 doi: 10.1016/S2468-1253(17)30154-1. PMID: 28690131
Macdonald LE, Brett J, Kelton D, Majowicz SE, Snedeker K, Sargeant JM
J Food Prot 2011 Nov;74(11):1814-32. doi: 10.4315/0362-028X.JFP-10-269. PMID: 22054181

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...