Learn About Congenital Sucrase-Isomaltase Deficiency

What is the definition of Congenital Sucrase-Isomaltase Deficiency?

Congenital sucrase-isomaltase deficiency is a disorder that affects a person'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).

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What are the causes of Congenital Sucrase-Isomaltase Deficiency?

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. Mutations 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, causing the intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.

How prevalent is 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.

Is Congenital Sucrase-Isomaltase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Congenital Sucrase-Isomaltase Deficiency Local Doctors?
Distinguished
Highly rated in
6
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University Of Veterinary Medicine Hannover

Hannover, NI, DE 30559

Hassan Naim is in Hannover, Germany. Naim is rated as a Distinguished expert by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Lactose Intolerance, Farber Lipogranulomatosis, and Malabsorption.

Distinguished
Highly rated in
13
conditions
Internal Medicine

The Hospitals of Providence

Providence Physician Partners

550 S Mesa Hills Dr 
El Paso, TX 79912

Luis Guerra is an Internal Medicine doctor in El Paso, Texas. Dr. Guerra has been practicing medicine for over 36 years and is rated as a Distinguished doctor by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Glucose-Galactose Malabsorption Deficiency, Glucose Phosphate Isomerase Deficiency, and Type 2 Diabetes. He is licensed to treat patients in Texas. Dr. Guerra is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
5
conditions
Internal Medicine

Lahey Health Primary Care, Sudbury

29 Hudson St 
Sudbury, MA 1776

Paula Carbone is an Internal Medicine doctor in Sudbury, Massachusetts. Dr. Carbone has been practicing medicine for over 32 years and is rated as a Distinguished doctor by MediFind in the treatment of Congenital Sucrase-Isomaltase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Congenital Sucrase-Isomaltase Deficiency, Glucose-Galactose Malabsorption Deficiency, Glucose Phosphate Isomerase Deficiency, and Vitamin D Deficiency. She is licensed to treat patients in Massachusetts. Dr. Carbone is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date:updated Last, July

Published By: National Institutes of Health

What are the Latest Advances for Congenital Sucrase-Isomaltase Deficiency?
Theories behind the effect of starch‑ and sucrose‑reduced diets on gastrointestinal symptoms in irritable bowel syndrome (Review).
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