Congenital Sucrase-Isomaltase Deficiency Overview
Learn About Congenital Sucrase-Isomaltase Deficiency
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).
Variants (also known as mutations) in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine. Variants that cause this condition alter the structure, disrupt the production, or impair the function of sucrase-isomaltase. These changes prevent the enzyme from breaking down sucrose and maltose. Rather than being absorbed by the small intestine, the undigested sugars move to the large intestine (colon). Here, they attract water and are consumed by normal bacteria in the colon, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.
The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.
Congenital sucrase-isomaltase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they may not show signs and symptoms of the condition.
Diab Husein practices in Hannover, Germany. Mr. Husein is rated as an Elite expert by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. His top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Irritable Bowel Syndrome (IBS), Cerebral Hypoxia, and Farber Lipogranulomatosis.
Arnett Clinic, LLC
Joel Mulder is a primary care provider, practicing in Family Medicine in Lafayette, Indiana. Dr. Mulder is rated as an Advanced provider by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. His top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Glucose-Galactose Malabsorption Deficiency, Glucose Phosphate Isomerase Deficiency, and Bronchitis. Dr. Mulder is currently accepting new patients.
Texas Health Physicians Group
Todd Cowan is a primary care provider, practicing in Family Medicine in Fort Worth, Texas. Dr. Cowan is rated as an Advanced provider by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. His top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Glucose-Galactose Malabsorption Deficiency, Glucose Phosphate Isomerase Deficiency, and Glucocorticoid-Remediable Aldosteronism.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: February 14, 2023
Published By: National Institutes of Health