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Sucrase-isomaltase deficiency(CSID)

MedGen UID:
220924
Concept ID:
C1283620
Disease or Syndrome
Synonyms: congenital sucrase-isomaltase deficiency; Congenital sucrose isomaltose malabsorption; Congenital sucrose-isomaltase malabsorption; CSID; Deficiency of isomaltase; Disaccharide intolerance, 1; SI deficiency; Sucrose intolerance congenital; Sucrose isomaltose enzyme deficiency
SNOMED CT: Congenital sucrose-isomaltase intolerance (78373000); Sucrase-alpha-dextrinase deficiency (78373000); Sucrase-isomaltase deficiency (78373000); Congenital sucrose intolerance (78373000); Congenital sucrose malabsorption (78373000); Intestinal sucrase-a-dextrinase deficiency (78373000); Disaccharide intolerance I (78373000); Deficiency of isomaltase (360854006); Deficiency of oligo-1,6-glucosidase (360854006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SI (3q26.1)
 
Monarch Initiative: MONDO:0009114
OMIM®: 222900
Orphanet: ORPHA35122

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
Congenital sucrase-isomaltase deficiency is a rare genetic disorder that affects an individual's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates).

Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, grains, and other starchy food. After ingestion of sucrose or maltose, an affected individual will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition.   https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Decreased mucosal sucrase-isomaltase activity
MedGen UID:
1781136
Concept ID:
C5539709
Finding
Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSucrase-isomaltase deficiency
Follow this link to review classifications for Sucrase-isomaltase deficiency in Orphanet.

Professional guidelines

PubMed

Viswanathan L, Rao SS
Curr Gastroenterol Rep 2023 Jun;25(6):134-139. Epub 2023 May 18 doi: 10.1007/s11894-023-00870-z. PMID: 37199899Free PMC Article
O'Brien L, Wall CL, Wilkinson TJ, Gearry RB
Nutrients 2021 Apr 21;13(5) doi: 10.3390/nu13051393. PMID: 33919083Free PMC Article
Clark JH, Bullock L, Fitzgerald JF
J Pediatr Gastroenterol Nutr 1986 Jan;5(1):81-6. doi: 10.1097/00005176-198601000-00015. PMID: 3080579

Recent clinical studies

Etiology

Biesiekierski JR, Tuck CJ
Curr Opin Pharmacol 2022 Jun;64:102208. Epub 2022 Apr 3 doi: 10.1016/j.coph.2022.102208. PMID: 35385810
Haller E, Scarlata K
Gastroenterol Clin North Am 2021 Sep;50(3):565-579. Epub 2021 Jun 25 doi: 10.1016/j.gtc.2021.03.005. PMID: 34304788
O'Brien L, Wall CL, Wilkinson TJ, Gearry RB
Nutrients 2021 Apr 21;13(5) doi: 10.3390/nu13051393. PMID: 33919083Free PMC Article
Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A, Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P, Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A, D'Amato M
Clin Gastroenterol Hepatol 2018 Oct;16(10):1673-1676. Epub 2018 Feb 21 doi: 10.1016/j.cgh.2018.01.047. PMID: 29408290Free PMC Article
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article

Diagnosis

Danialifar TF, Chumpitazi BP, Mehta DI, Di Lorenzo C
J Pediatr Gastroenterol Nutr 2024 Apr;78(4):774-782. Epub 2024 Feb 8 doi: 10.1002/jpn3.12151. PMID: 38327254
Tuck CJ, Biesiekierski JR, Schmid-Grendelmeier P, Pohl D
Nutrients 2019 Jul 22;11(7) doi: 10.3390/nu11071684. PMID: 31336652Free PMC Article
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Hammer HF, Hammer J
Gastroenterol Clin North Am 2012 Sep;41(3):611-27. Epub 2012 Jul 5 doi: 10.1016/j.gtc.2012.06.003. PMID: 22917167
Perman JA, Barr RG, Watkins JB
J Pediatr 1978 Jul;93(1):17-22. doi: 10.1016/s0022-3476(78)80592-7. PMID: 650340

Therapy

Biesiekierski JR, Tuck CJ
Curr Opin Pharmacol 2022 Jun;64:102208. Epub 2022 Apr 3 doi: 10.1016/j.coph.2022.102208. PMID: 35385810
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Hammer HF, Hammer J
Gastroenterol Clin North Am 2012 Sep;41(3):611-27. Epub 2012 Jul 5 doi: 10.1016/j.gtc.2012.06.003. PMID: 22917167
Treem WR
J Pediatr Gastroenterol Nutr 1995 Jul;21(1):1-14. doi: 10.1097/00005176-199507000-00001. PMID: 8576798
Clark JH, Bullock L, Fitzgerald JF
J Pediatr Gastroenterol Nutr 1986 Jan;5(1):81-6. doi: 10.1097/00005176-198601000-00015. PMID: 3080579

Prognosis

Biesiekierski JR, Tuck CJ
Curr Opin Pharmacol 2022 Jun;64:102208. Epub 2022 Apr 3 doi: 10.1016/j.coph.2022.102208. PMID: 35385810
Tuck CJ, Biesiekierski JR, Schmid-Grendelmeier P, Pohl D
Nutrients 2019 Jul 22;11(7) doi: 10.3390/nu11071684. PMID: 31336652Free PMC Article
Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A, Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P, Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A, D'Amato M
Clin Gastroenterol Hepatol 2018 Oct;16(10):1673-1676. Epub 2018 Feb 21 doi: 10.1016/j.cgh.2018.01.047. PMID: 29408290Free PMC Article
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Lloyd-Still JD, Listernick R, Buentello G
J Pediatr 1988 May;112(5):709-13. doi: 10.1016/s0022-3476(88)80686-3. PMID: 3361380

Clinical prediction guides

Biesiekierski JR, Tuck CJ
Curr Opin Pharmacol 2022 Jun;64:102208. Epub 2022 Apr 3 doi: 10.1016/j.coph.2022.102208. PMID: 35385810
Tuck CJ, Biesiekierski JR, Schmid-Grendelmeier P, Pohl D
Nutrients 2019 Jul 22;11(7) doi: 10.3390/nu11071684. PMID: 31336652Free PMC Article
Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A, Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P, Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A, D'Amato M
Clin Gastroenterol Hepatol 2018 Oct;16(10):1673-1676. Epub 2018 Feb 21 doi: 10.1016/j.cgh.2018.01.047. PMID: 29408290Free PMC Article
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Slawson MH
J Pediatr Gastroenterol Nutr 2012 Nov;55 Suppl 2:S30-2. doi: 10.1097/01.mpg.0000421406.80504.1d. PMID: 23103648

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