Research & Literature

Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.

Puntis JW, Zamvar V

Archives of disease in childhood 2015; (100(9)):869-71 doi:10.1136/archdischild-2015-308388.

The multiple roles of sucrase-isomaltase in the intestinal physiology.

Gericke B, Amiri M, Naim HY

Molecular and cellular pediatrics 2016; (3(1)):2 doi:10.1186/s40348-016-0033-y.

The clinical consequences of sucrase-isomaltase deficiency.

Cohen SA

Molecular and cellular pediatrics 2016; (3(1)):5 doi:10.1186/s40348-015-0028-0.

Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

Henström M, Diekmann L, Bonfiglio F, et al.

Gut 2018; (67(2)):263-270 doi:10.1136/gutjnl-2016-312456.

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

Gericke B, Amiri M, Scott CR, Naim HY

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(3)):817-826 doi:10.1016/j.bbadis.2016.12.017.

Improved Starch Digestion of Sucrase-deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements.

Nichols BL, Avery SE, Quezada-Calvillo R, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(2)):e35-e42 doi:10.1097/MPG.0000000000001561.

ChREBP-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption.

Kato T, Iizuka K, Takao K, et al.

Nutrients 2018; (10(3)) doi:10.3390/nu10030340.

The History of Maltose-active Disaccharidases.

Lentze MJ

Journal of pediatric gastroenterology and nutrition 2018; (66 Suppl 3()):S4-S6 doi:10.1097/MPG.0000000000001960.

Structural Studies of the Intestinal α-Glucosidases, Maltase-glucoamylase and Sucrase-isomaltase.

Rose DR, Chaudet MM, Jones K

Journal of pediatric gastroenterology and nutrition 2018; (66 Suppl 3()):S11-S13 doi:10.1097/MPG.0000000000001953.

Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy.

Cohen SA, Oloyede H, Gold BD, et al.

Journal of pediatric gastroenterology and nutrition 2018; (66 Suppl 3()):S56-S60 doi:10.1097/MPG.0000000000001961.

13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency.

Robayo-Torres CC, Diaz-Sotomayor M, Hamaker BR, et al.

Journal of pediatric gastroenterology and nutrition 2018; (66 Suppl 3()):S61-S64 doi:10.1097/MPG.0000000000001858.

The Role of Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A Narrative Review.

Puertolas MV, Fifi AC

Nutrients 2018; (10(12)) doi:10.3390/nu10121835.

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Husein DM, Wanes D, Marten LM, et al.

Nutrients 2019; (11(10)) doi:10.3390/nu11102290.

Prevalence of Disaccharidase Deficiency in Adults With Unexplained Gastrointestinal Symptoms.

Viswanathan L, Rao SSC, Kennedy K, et al.

Journal of neurogastroenterology and motility 2020; (26(3)):384-390 doi:10.5056/jnm19167.

Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

Chumpitazi BP, Lewis J, Cooper D, et al.

PloS one 2020; (15(5)):e0231891 doi:10.1371/journal.pone.0231891.

Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.

Deb C, Campion S, Derrick V, et al.

Journal of pediatric gastroenterology and nutrition 2021; (72(1)):29-35 doi:10.1097/MPG.0000000000002852.

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Husein DM, Rizk S, Naim HY

Nutrients 2020; (13(1)) doi:10.3390/nu13010009.

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.

Smith H, Romero B, Flood E, Boney A

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2021; (30(8)):2329-2338 doi:10.1007/s11136-021-02819-z.

Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.

Chiruvella V, Cheema A, Arshad HMS, et al.

Cureus 2021; (13(4)):e14349 doi:10.7759/cureus.14349.

Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Zhou J, Zhao Y, Qian X, et al.

Frontiers in pediatrics 2021; (9()):731716 doi:10.3389/fped.2021.731716.

Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.

Senftleber NK, Ramne S, Moltke I, et al.

The application of clinical genetics 2023; (16()):31-39 doi:10.2147/TACG.S401712.

Intestinal Disaccharidase Deficiency in Adults: Evaluation and Treatment.

Viswanathan L, Rao SS

Current gastroenterology reports 2023; (25(6)):134-139 doi:10.1007/s11894-023-00870-z.

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.

Taskin DG, Civan HA, Sari EE, et al.

Journal of genetics 2023; (102()).

Genetic and acquired sucrase-isomaltase deficiency: A clinical review.

Danialifar TF, Chumpitazi BP, Mehta DI, Di Lorenzo C

Journal of pediatric gastroenterology and nutrition 2024; (78(4)):774-782 doi:10.1002/jpn3.12151.

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Barut D, Kıran Taşcı E, Kunay B, et al.

Scandinavian journal of gastroenterology 2024; (59(6)):647-651 doi:10.1080/00365521.2024.2324961.

Personal experiences of living with sucrose intolerance and attitudes towards genetic research in Greenland - a user study.

Isidor S, Senftleber N, Schnoor C, et al.

International journal of circumpolar health 2024; (83(1)):2383023 doi:10.1080/22423982.2024.2383023.

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

İryancı Fİ, Güven B, Çakır M

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2024; (35(4)):343-349 doi:10.5152/tjg.2024.23250.

Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study.

Zubarioglu T, Ulgen D, Akca-Yesil S, et al.

Autism research : official journal of the International Society for Autism Research 2025; (18(1)):44-55 doi:10.1002/aur.3293.

Demystifying Carbohydrate Maldigestion: A Clinical Review.

Cash BD, Patel D, Scarlata K

The American journal of gastroenterology 2025; (120(4S)):1-11 doi:10.14309/ajg.0000000000003374.

Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challenge.

Demir E, Tunç A, Başer B, et al.

Scandinavian journal of gastroenterology 2026; (61(3)):268-276 doi:10.1080/00365521.2026.2615396.