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Decreased mucosal sucrase-isomaltase activity

MedGen UID:
1781136
Concept ID:
C5539709
Finding
HPO: HP:0033597

Definition

Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased mucosal sucrase-isomaltase activity

Conditions with this feature

Sucrase-isomaltase deficiency
MedGen UID:
220924
Concept ID:
C1283620
Disease or Syndrome
Congenital sucrose-isomaltase deficiency (CSID) is an autosomal recessive disorder characterized by absence of sucrase and most of the maltase digestive activity within the sucrase-isomaltase enzyme complex, with the isomaltase activity varying from absent to normal. The large amounts of unabsorbed disaccharides create osmotic-fermatative diarrhea with symptoms such as vomiting, flatulence, and abdominal pain (summary by Sander et al., 2006).

Recent clinical studies

Diagnosis

Grefte JM, Bouman JG, Grond J, Jansen W, Kleibeuker JH
J Clin Pathol 1988 Aug;41(8):886-91. doi: 10.1136/jcp.41.8.886. PMID: 3170777Free PMC Article
Cooper BT, Candy DC, Harries JT, Peters TJ
Clin Sci (Lond) 1979 Aug;57(2):181-5. doi: 10.1042/cs0570181. PMID: 383373

Therapy

Engevik AC, Kaji I, Engevik MA, Meyer AR, Weis VG, Goldstein A, Hess MW, Müller T, Koepsell H, Dudeja PK, Tyska M, Huber LA, Shub MD, Ameen N, Goldenring JR
Gastroenterology 2018 Dec;155(6):1883-1897.e10. Epub 2018 Aug 23 doi: 10.1053/j.gastro.2018.08.025. PMID: 30144427Free PMC Article
Blais A, Fan C, Voisin T, Aattouri N, Dubarry M, Blachier F, Tomé D
Biometals 2014 Oct;27(5):857-74. Epub 2014 Aug 1 doi: 10.1007/s10534-014-9779-7. PMID: 25082351
Grefte JM, Bouman JG, Grond J, Jansen W, Kleibeuker JH
J Clin Pathol 1988 Aug;41(8):886-91. doi: 10.1136/jcp.41.8.886. PMID: 3170777Free PMC Article

Prognosis

Grefte JM, Bouman JG, Grond J, Jansen W, Kleibeuker JH
J Clin Pathol 1988 Aug;41(8):886-91. doi: 10.1136/jcp.41.8.886. PMID: 3170777Free PMC Article

Clinical prediction guides

Mohan S, Eskandari R, Pinto BM
Acc Chem Res 2014 Jan 21;47(1):211-25. Epub 2013 Aug 22 doi: 10.1021/ar400132g. PMID: 23964564
Seltana A, Guezguez A, Lepage M, Basora N, Beaulieu JF
Biochem Biophys Res Commun 2013 Jan 25;430(4):1195-200. Epub 2012 Dec 27 doi: 10.1016/j.bbrc.2012.12.085. PMID: 23274493
Humen MA, Pérez PF, Liévin-Le Moal V
Cell Microbiol 2011 Nov;13(11):1683-702. Epub 2011 Aug 24 doi: 10.1111/j.1462-5822.2011.01647.x. PMID: 21790940
Peiffer I, Bernet-Camard MF, Rousset M, Servin AL
Cell Microbiol 2001 May;3(5):341-57. doi: 10.1046/j.1462-5822.2001.00121.x. PMID: 11298656
Jourdan N, Brunet JP, Sapin C, Blais A, Cotte-Laffitte J, Forestier F, Quero AM, Trugnan G, Servin AL
J Virol 1998 Sep;72(9):7228-36. doi: 10.1128/JVI.72.9.7228-7236.1998. PMID: 9696817Free PMC Article

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