Congenital sucrase-isomaltase deficiency is an inherited condition that is characterized as the inability to digest a certain sugar known as sucrose. This condition is autosomal recessive, meaning for a child to have this disease both parents have to carry the affected gene. Because of a lack of certain enzymes, those affected by this deficiency are not able to digest sucrose properly. Sucrose is a sugar that is found in most foods ranging from candy and ice cream to fruit juice and breads. Infants who have a congenital sucrase-isomaltase deficiency will not show any symptoms until they are transitioned to foods that contain sucrose.
The most common symptoms of an intolerance to sucrose are chronic diarrhea and stomach pain. Repeated consumption of sucrose can eventually lead to further malabsorption issues, weight loss, infections, and failure to thrive in children. Affected children may be diagnosed with an intolerance to gluten or milk before sucrose is suspected.
Congenital sucrase-Isomaltase Deficiency Can be Misdiagnosed
There are several different ways that congenital sucrase-isomaltase deficiency can be diagnosed. One of the most common ways is to perform a simple sucrose breath test. A breath test, however, is not the most accurate way to diagnose this condition and further testing may be needed. A small bowel biopsy can be performed to confirm a sucrase-isomaltase deficiency diagnosis.
The severity of this condition varies from person to person. Some can handle a glass of juice or piece of cake with little discomfort, while for others the affects are devastating. Traditionally, the only way that patients with a severe form of this deficiency could manage their condition was to follow a strict sucrose-free diet. It is of little surprise that compliance with a sucrose-free diet is very low. While there is currently no cure for individuals with this disease, fortunately there is a pharmacological treatment that can replace the missing enzymes.