Sucrase-isomaltase deficiency Save

Sucrase-isomaltase deficiency, also known as congenital sucrase-isomaltase deficiency, is a rare genetic disorder that affects the body's ability to digest certain sugars, specifically sucrose and maltose. Sucrase and isomaltase are two enzymes produced by the small intestine that break down these sugars into glucose, which can then be absorbed into the bloodstream.

In individuals with sucrase-isomaltase deficiency, the small intestine produces little to no sucrase and isomaltase enzymes, which results in an inability to digest sucrose and maltose properly. This can lead to symptoms such as abdominal pain, bloating, gas, diarrhea, and malnutrition. Symptoms may be more severe in infants and young children.

Sucrase-isomaltase deficiency is a genetic disorder and is typically inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder.

Diagnosis of sucrase-isomaltase deficiency typically involves a hydrogen breath test, which measures the amount of hydrogen in a person's breath after they consume a sugary drink. If the levels of hydrogen are elevated, it may indicate that the sugars are not being properly digested in the small intestine.

Treatment for sucrase-isomaltase deficiency involves avoiding foods and drinks that contain sucrose and maltose. This may include limiting or avoiding sweets, candy, soft drinks, and certain fruits and vegetables. In some cases, a low-lactose diet may also be recommended, as lactose can be difficult to digest in individuals with sucrase-isomaltase deficiency.

There is no cure for sucrase-isomaltase deficiency, but with proper management, individuals with the disorder can live healthy and fulfilling lives. It is important for individuals with sucrase-isomaltase deficiency to work closely with their healthcare provider and a registered dietitian to develop a personalized nutrition plan and to monitor for any potential complications.