congenital Sucrase-isomaltase deficiency

Autosomal recessive mutations in the SI gene that cause a deficiency of sucrase-isomaltase. This disrupts the HYDROLYSIS of dietary SUCROSE and some of the products of STARCH digestion, which causes osmotic DIARRHEA when the DISACCHARIDE is ingested, because absorption cannot occur until after hydrolysis produces the component MONOSACCHARIDES. OMIM: 222900

Also Known As:

Sucrase-isomaltase deficiency, congenital; Congenital Sucrase-Isomaltase Deficiency; Congenital Sucrose Intolerance; Congenital Sucrose-Isomaltose Malabsorption; Congenital sucrose-isomaltase malabsorption; Disaccharide Intolerance I; Disaccharide intolerance, 1; Si Deficiency; Sucrase-Isomaltase Deficiency; Sucrose Intolerance, Congenital; Sucrose intolerance congenital; Sucrose-Isomaltose Malabsorption, Congenital; Sucrose-isomaltase malabsorption, congenital

Networked: 94 relevant articles (1 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Diarrhea
2.	Shock
3.	Gastrointestinal Diseases (Functional Gastrointestinal Disorders)
4.	Colic (Abdominal Cramps)
5.	Abdominal Pain (Pain, Abdominal)

Experts

1.	Naim, Hassan Y: 16 articles (09/2021 - 05/2003)
2.	Husein, Diab M: 4 articles (12/2020 - 02/2019)
3.	Zimmer, Klaus-Peter: 4 articles (09/2019 - 12/2003)
4.	Keiser, Markus: 4 articles (10/2009 - 01/2006)
5.	Alfalah, Marwan: 4 articles (03/2009 - 12/2003)
6.	Ohlsson, Bodil: 3 articles (10/2021 - 01/2018)
7.	Baker, Susan S: 3 articles (06/2018 - 04/2002)
8.	Hamaker, Bruce R: 3 articles (06/2018 - 11/2012)
9.	Nichols, Buford L: 3 articles (06/2018 - 04/2009)
10.	Opekun, Antone R: 3 articles (06/2018 - 04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to congenital Sucrase-isomaltase deficiency:

1.	beta-Fructofuranosidase (Invertase)FDA Link 09/01/2015 - "Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. " 10/01/2009 - "Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy." 02/01/1999 - "Sacrosidase therapy for congenital sucrase-isomaltase deficiency." 09/01/2015 - "Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. " 02/01/1999 - "The purpose of this study was to determine if sacrosidase, a liquid produced from Saccharomyces cerevisiae containing 6000 IU of sucrase activity per mg protein, prevented symptoms of diarrhea, abdominal cramps, gas, and bloating in patients with congenital sucrase-isomaltase deficiency (CSID) consuming a normal sucrose and carbohydrate-containing diet. "
2.	Sucrase (Sucrose alpha-D-Glucohydrolase)IBA 08/01/2012 - "A liquid of yeast sucrase was developed for treatment of congenital sucrase-isomaltase deficiency (CSID) in human. " 01/01/2012 - "Yeast sucrase is taken as a drug by patients with congenital sucrase-isomaltase deficiency (CSID). " 05/01/1975 - "In some patients with hereditary sucrase-isomaltase deficiency, abnormal persistence of sucrase precurosr due to a faulty activation mechanism may be the underlying defect." 10/01/1972 - "Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency." 03/27/1971 - "Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency."
3.	Sucrose (Saccharose)IBA 05/21/1987 - "We conclude that patients with congenital sucrase-isomaltase deficiency who intentionally or unintentionally consume sucrose can ameliorate the malabsorption by subsequently ingesting a small amount of viable yeast cells, preferably on a full stomach." 05/01/1986 - "Small intestinal biopsies from nine patients with sucrase-isomaltase deficiency (sucrose-intolerance) were analyzed. " 07/09/1983 - "The results of tests on 16 patients were positive (sucrase-isomaltase deficiency, seven patients; secondary sucrose malabsorption, nine patients). " 03/01/1981 - "Small intestinal biopsies from three patients with sucrose intolerance (sucrase-isomaltase deficiency) were studied by means of immunoelectrophoresis and enzymatic assays. " 08/01/1980 - "Sucrase isomaltase deficiency was documented by oral sucrose loading tests and by enzymatic assay of small intestinal mucose biopsy."
4.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "SI expression and localization studies determined that the mutated SI protein was not expressed on the brush border membrane in the patient's duodenal biopsies, verifying the diagnosis of congenital sucrase-isomaltase deficiency (CSID). " 12/01/1991 - "Cell culture systems, in particular Caco-2, and sucrase-isomaltase deficiency in humans are attractive models to study exocytic protein traffic in absorptive intestinal epithelial cells. " 01/01/2017 - "Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization." 03/01/2000 - "Among Finnish children, 31% (59/188) had lactase activity below the established reference range of 20 units (units are micromoles of substrate hydrolyzed per minute at 37 degrees C per gram of protein) and one child had a probable sucrase-isomaltase deficiency. " 10/01/1977 - "The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme."
5.	Starch (Cornstarch)IBA 06/01/2018 - "Clinical studies suggest that starch may be poorly digested in those with congenital sucrase-isomaltase deficiency (CSID). " 11/01/2012 - "Starch digestion and patients with congenital sucrase-isomaltase deficiency." 11/01/2022 - "The importance of SI in gut health is typified by the development of sucrose and starch maldigestion in individuals carrying mutations in the SI gene, like in congenital sucrase-isomaltase deficiency (CSID). " 10/01/2021 - "A subgroup of patients with IBS may thus suffer from partial SI deficiency with reduced digestion of starch and sucrose. " 04/07/2021 - "Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder which leads to chronic intestinal malabsorption of nutrients from ingested starch and sucrose. "
6.	CarbohydratesIBA 02/22/2019 - "The symptoms are similar to those in other carbohydrate malabsorption disorders, such as congenital sucrase-isomaltase deficiency, and include severe osmotic watery diarrhea. " 05/01/1988 - "Nosocomial gastroenteritis complicated a primary disorder of carbohydrate absorption (primary glucose galactose malabsorption, two; primary sucrase isomaltase deficiency, one) in all patients. " 01/01/2022 - "Sucrose intolerance is a form of carbohydrate malabsorption caused by sucrase-isomaltase deficiency that is more common than recognized. " 03/01/2001 - "A new mechanism for carbohydrate malabsorption was discovered: in sucrase-isomaltase deficiency, the enzyme fails to anchor in the brush border membrane and so is secreted into the lumen, where it is ineffective. " 01/01/2023 - "Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. "
7.	Oligo-1,6-Glucosidase (Isomaltase)IBA 12/22/2020 - "Congenital sucrase-isomaltase deficiency (CSID) is a rare metabolic intestinal disorder with reduced or absent activity levels of sucrase-isomaltase (SI). " 01/01/2017 - "Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients." 03/01/2009 - "Congenital sucrase-isomaltase (SI) deficiency is an autosomal-recessive intestinal disorder characterized by a drastic reduction or absence of sucrase and isomaltase activities. " 01/01/2008 - "We report on two brothers suffering from a special form of sucrase isomaltase (SI) deficiency. " 01/01/2006 - "Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. "
8.	DisaccharidasesIBA 01/01/2018 - "After the first descriptions of congenital sucrase-isomaltase deficiency in 1960 and 1961, the research on disaccharidases increased. " 06/01/1996 - "The diagnosis of congenital sucrase-isomaltase deficiency was established by mucosal disaccharidase assay. " 06/01/1985 - "Duodenal biopsy results obtained from 48 of the children gave a 23% incidence of misleading disaccharidase results (16.7% falsely normal, 6.3% falsely abnormal), but biopsy remains vital in the diagnosis of congenital sucrase-isomaltase deficiency. " 08/01/1979 - "1. Jejunal biopsy specimens from three children with congenital sucrase-isomaltase deficiency were assayed for disaccharidase activity and were subjected to analytical subcellular fractionation with enzymic microanalysis. " 11/01/2022 - "There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). "
9.	Mannose (D-Mannose)IBA 02/01/1996 - "Here, we analyze at the molecular level a phenotype of congenital sucrase-isomaltase deficiency in which sucrase-isomaltase (SI) is not transported to the brush border membrane but accumulates as a mannose-rich precursor in the endoplasmic reticulum (ER), ER-Golgi intermediate compartment, and the cis-Golgi, where it is finally degraded. " 02/19/1987 - "Studies in a patient with primary sucrase-isomaltase deficiency demonstrated normal translation and high-mannose glycosylation of the precursor but a failure in further processing of the oligosaccharides, with subsequent intracellular degradation of the glycoprotein and undetectable enzymatic activity of intestinal sucrase. "
10.	OligosaccharidesIBA 02/19/1987 - "Studies in a patient with primary sucrase-isomaltase deficiency demonstrated normal translation and high-mannose glycosylation of the precursor but a failure in further processing of the oligosaccharides, with subsequent intracellular degradation of the glycoprotein and undetectable enzymatic activity of intestinal sucrase. "

Therapies and Procedures

1.	Therapeutics 10/01/2009 - "Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy." 02/01/1999 - "Sacrosidase therapy for congenital sucrase-isomaltase deficiency." 05/21/1987 - "Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency."
2.	Enzyme Replacement Therapy 09/01/2015 - "Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy." 10/01/1993 - "No enzyme replacement therapy exists for patients with congenital sucrase-isomaltase deficiency (CSID). "