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Sucrase-isomaltase deficiency(CSID)

MedGen UID:
220924
•Concept ID:
C1283620
•
Disease or Syndrome
Synonyms: Congenital sucrose isomaltose malabsorption; CSID; Deficiency of isomaltase; SI DEFICIENCY; 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.
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.
Kidney stone
MedGen UID:
98227
•Concept ID:
C0392525
•
Disease or Syndrome
Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae.
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

Senadheera P, Silva B, Jayasena H, Niriella M
Curr Med Res Opin 2026 Jul;42(7):1299-1318. Epub 2026 Aug 13 doi: 10.1080/03007995.2026.2716974. PMID: 42593414
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

Recent clinical studies

Etiology

Senftleber N, Christensen MMB, Carstensen B, Stæger FF, Frøst MB, Gillum MP, Hansen T, Jørgensen ME
Diabetologia 2026 Jul;69(7):2015-2028. Epub 2026 Apr 17 doi: 10.1007/s00125-026-06723-4. PMID: 41995844Free PMC Article
Silva H, Zheng T, Porter J, Barrett J, Garg M, Gibson PR
United European Gastroenterol J 2026 Feb;14(1):e70173. doi: 10.1002/ueg2.70173. PMID: 41546858Free PMC Article
Demir E, Tunç A, Başer B, Mermer S, Onay H, Ürel-Demir G
Scand J Gastroenterol 2026 Mar;61(3):268-276. Epub 2026 Jan 12 doi: 10.1080/00365521.2026.2615396. PMID: 41524269
Morris J, Moreland E, Wands DIF, Russell RK
Arch Dis Child 2025 Aug 18;110(9):717-721. doi: 10.1136/archdischild-2023-326793. PMID: 40216532
Zubarioglu T, Ulgen D, Akca-Yesil S, Akbulut S, Onay H, Uzunyayla-Inci G, Beser OF, Hatemi Aİ, Aktuğlu-Zeybek Ç, Kiykim E
Autism Res 2025 Jan;18(1):44-55. Epub 2024 Dec 16 doi: 10.1002/aur.3293. PMID: 39676735

Diagnosis

Senadheera P, Silva B, Jayasena H, Niriella M
Curr Med Res Opin 2026 Jul;42(7):1299-1318. Epub 2026 Aug 13 doi: 10.1080/03007995.2026.2716974. PMID: 42593414
Spurná Z, Fišer M, Macek M Jr, Schwarz M
Scand J Gastroenterol 2026 Sep;61(9):916-921. Epub 2026 Jun 1 doi: 10.1080/00365521.2026.2681103. PMID: 42223142
Demirci FK, Koca TG, Elmas A, Akçam M
J Clin Med 2026 May 9;15(10) doi: 10.3390/jcm15103639. PMID: 42194600Free PMC Article
Hoskins BJ, Freeman J, Kutty S, Miller SD, Smith J, Scheimann AO, Karnsakul W
Pediatr Gastroenterol Hepatol Nutr 2026 Mar;29(2):120-130. Epub 2026 Mar 5 doi: 10.5223/pghn.2026.29.2.120. PMID: 41877710Free PMC Article
Demir E, Tunç A, Başer B, Mermer S, Onay H, Ürel-Demir G
Scand J Gastroenterol 2026 Mar;61(3):268-276. Epub 2026 Jan 12 doi: 10.1080/00365521.2026.2615396. PMID: 41524269

Therapy

Senftleber N, Christensen MMB, Carstensen B, Stæger FF, Frøst MB, Gillum MP, Hansen T, Jørgensen ME
Diabetologia 2026 Jul;69(7):2015-2028. Epub 2026 Apr 17 doi: 10.1007/s00125-026-06723-4. PMID: 41995844Free PMC Article
Karrento K, Lu PL, Chumpitazi BP
Am J Gastroenterol 2025 Jun 6;120(8):1742-1749. doi: 10.14309/ajg.0000000000003579. PMID: 40478271Free PMC Article
Morris J, Moreland E, Wands DIF, Russell RK
Arch Dis Child 2025 Aug 18;110(9):717-721. doi: 10.1136/archdischild-2023-326793. PMID: 40216532
Roth B, Ohlsson B
Nutrition 2024 Jan;117:112254. Epub 2023 Oct 8 doi: 10.1016/j.nut.2023.112254. PMID: 37924624
Senftleber NK, Skøtt Pedersen K, Schnoor Jørgensen C, Pedersen H, Bjerg Christensen MM, Kabel Madsen E, Andersen K, Jørsboe E, Gillum MP, Frøst MB, Hansen T, Jørgensen ME
Int J Circumpolar Health 2023 Dec;82(1):2178067. Epub 2023 Feb 22 doi: 10.1080/22423982.2023.2178067. PMID: 38113483Free PMC Article

Prognosis

de Leusse C, Roman C, Roquelaure B, Fabre A
Arch Pediatr 2022 Nov;29(8):599-603. Epub 2022 Sep 25 doi: 10.1016/j.arcped.2022.08.005. PMID: 36167617
Biesiekierski JR, Tuck CJ
Curr Opin Pharmacol 2022 Jun;64:102208. Epub 2022 Apr 3 doi: 10.1016/j.coph.2022.102208. PMID: 35385810
Viswanathan L, Rao SSC, Kennedy K, Sharma A, Yan Y, Jimenez E
J Neurogastroenterol Motil 2020 Jul 30;26(3):384-390. doi: 10.5056/jnm19167. PMID: 32380581Free PMC Article
Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP
Glycobiology 2020 Jul 16;30(8):500-515. doi: 10.1093/glycob/cwaa010. PMID: 32039448Free PMC Article
Reed RC, Pacheco MC
Am J Clin Pathol 2019 Nov 4;152(6):742-746. doi: 10.1093/ajcp/aqz091. PMID: 31332425

Clinical prediction guides

Demirci FK, Koca TG, Elmas A, Akçam M
J Clin Med 2026 May 9;15(10) doi: 10.3390/jcm15103639. PMID: 42194600Free PMC Article
Senftleber N, Christensen MMB, Carstensen B, Stæger FF, Frøst MB, Gillum MP, Hansen T, Jørgensen ME
Diabetologia 2026 Jul;69(7):2015-2028. Epub 2026 Apr 17 doi: 10.1007/s00125-026-06723-4. PMID: 41995844Free PMC Article
Morris J, Moreland E, Wands DIF, Russell RK
Arch Dis Child 2025 Aug 18;110(9):717-721. doi: 10.1136/archdischild-2023-326793. PMID: 40216532
Street K, Tao W, Cash B, Leung J, Hayes C, Cooper D, Peterson W
PLoS One 2024;19(9):e0310705. Epub 2024 Sep 18 doi: 10.1371/journal.pone.0310705. PMID: 39292728Free PMC Article
Dale HF, Hagen M, Deb C, Skar V, Valeur J
Scand J Clin Lab Invest 2024 Jul;84(4):268-272. Epub 2024 Jul 10 doi: 10.1080/00365513.2024.2377960. PMID: 38984772

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