• Don't fight Congenital sucrase-isomaltase deficiency alone. (rareguru.com)
  • Connect with other caregivers and patients with Congenital sucrase-isomaltase deficiency and get the support you need. (rareguru.com)
  • Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. (rareguru.com)
  • What are the signs and symptoms of congenital sucrase-isomaltase deficiency (CSID)? (rareguru.com)
  • How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? (rareguru.com)
  • How might congenital sucrase-isomaltase deficiency (CSID) be treated? (rareguru.com)
  • The CSID Patient Community Support Yahoo Group is a community for patients and caregivers living with congenital sucrase isomaltase deficiency and for their families and friends. (rareguru.com)
  • Sucraid ® (sacrosidase) Oral Solution is an enzyme replacement therapy for the treatment of genetically determined sucrase deficiency, which is part of Congenital Sucrase-Isomaltase Deficiency (CSID). (csiddiseaseinfo.com)
  • Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain. (clinicaltrialsgps.com)
  • Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine. (wikipedia.org)
  • GSID involves deficiency in the enzyme sucrase-isomaltase, which breaks the bond between the glucose and fructose molecules. (wikipedia.org)
  • A deficiency of sucrase may result in malabsorption of sugar, which can lead to potentially serious symptoms. (wikipedia.org)
  • Chronic gastrointestinal symptoms that are fairly common but difficult to diagnose may be caused by congenital sucrase-isomaltase deficiency (CSID). (wikipedia.org)
  • In addition to CSID, a primary gastrointestinal disorder such as a gastrointestinal infection, celiac disease or Crohn's disease, can transiently suppress the digestive function of sucrase-isomaltase, causing an acquired form of sucrase-isomaltase deficiency (SID). (wikipedia.org)
  • A deficiency or absence of sucrase-isomaltase function is likely to cause chronic gastrointestinal symptoms whenever a person eats food containing sucrose or starch sugars, which are very common in carbohydrates. (wikipedia.org)
  • Carbohydrate intolerances with early onset and genetic cause include congenital sucrase-isomaltase deficiency (CSID), glucose-galactose malabsorption (GGM) and congenital lactase deficiency (CLD). (blueprintgenetics.com)
  • Sacrosidase is used to treat sucrase deficiency that occurs in people with congenital sucrase-isomaltase deficiency (CSID). (everydayhealth.com)
  • Sucraid ® has not been tested to see if it works in patients with secondary (acquired) sucrase deficiency. (csidcares.org)
  • The absence of SI from the brush border membrane or its malfunction is associated with malabsorption disorders such as congenital sucrase-isomaltase deficiency (CSID). (umbc.edu)
  • The gene encoding for sucrase-isomaltase deficiency is localized on the long arm of chromosome 3 (3q25-q26). (mhmedical.com)
  • Background Enzyme replacement therapy with SUCRAID offers a pharmacologic alternative to sucrose free diets to treat symptoms in congenital sucrase-isomaltase deficiency (CSID). (bmj.com)
  • Congenital sucrase-isomaltase deficiency arising from a mutant form of sucrase-isomaltase that accumulates in the endoplasmic reticulum. (iberpymes.com)
  • Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). (lu.se)
  • Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. (silverchair.com)
  • Well, another interesting topic discussed by Dr Chey was Congenital Sucrase Isomaltase Deficiency (CSID) , an inherited disorder, where a person may have reduced ability to break down sucrose and dietary starch. (foodmarble.com)
  • Reversing non-congenital disaccharidase deficiency is something that can often be accomplished by paying careful attention to your symptoms and making necessary lifestyle changes. (drhoustonanderson.com)
  • The purpose of the digestive enzyme, sucrase-isomaltase, is to break down the compound sugars sucrose (table sugar) and starch sugars so they will be small enough to be absorbed from the gastrointestinal tract. (wikipedia.org)
  • In fact, the sucrase-isomaltase enzyme is responsible for the digestion of all foods containing sucrose and approximately 60% to 80% of all foods containing starch sugars. (wikipedia.org)
  • Sacrosidase is a yeast-based enzyme that replaces an enzyme called sucrase which is normally produced in the body. (everydayhealth.com)
  • In people who lack the sucrase enzyme, sugar can pass into the intestines where it can interact with bacteria. (everydayhealth.com)
  • Congenital enzyme defects resulting in chronic diarrhea and failure to thrive. (mhmedical.com)
  • Congenital enzyme deficiencies are rare and include deficiencies of lactase or sucrase-isomaltase. (msdmanuals.com)
  • [ 1 ] Clinical malabsorption can be broken down into several distinct conditions, both congenital and acquired, that affect one or more of the different steps in the intestinal hydrolysis and subsequent transport of nutrients. (medscape.com)
  • Either a congenital abnormality in the digestive or absorptive processes or, more commonly, a secondarily acquired disorder of such processes may result in malabsorption. (medscape.com)
  • The absence or severe reduction in sucrase and isomaltase activity in the brush-border membrane of the small intestine is responsible for malabsorption of dietary disaccharides and starch. (mhmedical.com)
  • All GSID patients lack fully functional sucrase, while the isomaltase activity can vary from minimal functionality to almost normal activity. (wikipedia.org)
  • Although Sucraid ® provides replacement therapy for the deficient sucrase, it does not provide specific replacement therapy for the deficient isomaltase. (csiddiseaseinfo.com)
  • Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit. (silverchair.com)
  • Infection may result in decreased intestinal absorption of sodium, glucose, and water, and decreased levels of intestinal lactase, alkaline phosphatase, and sucrase activity, and may lead to isotonic diarrhea. (cdc.gov)
  • Is ideal for patients with a clinical suspicion of congenital mono- or disaccharide disorders. (blueprintgenetics.com)
  • This family includes the following closely related glycosyl hydrolase family 31 (GH31) enzymes: maltase-glucoamylase (MGAM), sucrase-isomaltase (SI), lysosomal acid alpha-glucosidase (GAA), neutral alpha-glucosidase C (GANC), the alpha subunit of neutral alpha-glucosidase AB (GANAB), and alpha-glucosidase II. (umbc.edu)
  • This rare, genetic metabolic condition happens when someone is deficient in the enzymes sucrase and isomaltase. (pharexhealth.com)
  • The three major enzymes made by the brush border include sucrase-isomaltase, maltase-glucoamaltase and lactase. (drhoustonanderson.com)
  • The first phenotype revealed a sucrase-isomaltase protein that is synthesized as a single chain, mannose-rich polypeptide precursor (pro-SI) and is electrophoretically indistinguishable from pro-SI in normal controls. (silverchair.com)
  • Sucrase helps the body breakdown and process certain sugars during digestion. (everydayhealth.com)
  • Since sucrase-isomaltase is involved in the digestion of starches, some GSID patients may not be able to absorb starches as well. (wikipedia.org)
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  • CSID is usually characterized by a complete or almost complete lack of endogenous sucrase activity, a very marked reduction in isomaltase activity, a moderate decrease in maltase activity, and normal lactase levels. (nih.gov)
  • In the absence of endogenous human sucrase, as in CSID, sucrose is not metabolized. (nih.gov)
  • Fructose intolerance is a congenital hereditary disorder that causes serious symptoms as early as infancy. (medimpextrade.com)
  • Since sucrase-isomaltase is involved in the digestion of starches, some GSID patients may not be able to absorb starches as well. (wikipedia.org)
  • From the child who comes to us with pediatric cancer, congenital heart disease, or cystic fibrosis. (clinicaltrialsgps.com)
  • Sucrase is naturally produced in the brush border of the small intestine, primarily the distal duodenum and jejunum. (nih.gov)
  • The data imply that signals in sucrase-isomaltase that mediate its transfer from the endoplasmic reticulum to the Golgi apparatus differ from those mediating its transport from the Golgi apparatus to the cell surface. (unibas.ch)
  • Variants that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. (medlineplus.gov)
  • CONCLUSIONS: These results suggest that sucrase-isomaltase constitutes a promising drug target for improvement of metabolic health, and that the health benefits are mediated by reduced dietary sucrose uptake and possibly also by higher levels of circulating acetate. (ku.dk)
  • Overall, the findings suggest that in the patient sucrase-isomaltase is synthesized and transported to the Golgi apparatus, where further transport is interrupted. (unibas.ch)