Sucrase-isomaltase deficiency

Sucrase-Isomaltase Deficiency is a rare genetic disorder that affects the digestive system. It is characterized by the inability of the body to break down certain types of sugars due to the lack of two important enzymes, sucrase and isomaltase.

Causes

Sucrase-Isomaltase Deficiency is caused by mutations in the SI gene. This gene provides instructions for producing the sucrase-isomaltase enzyme complex, which is responsible for breaking down certain sugars in the small intestine. When the SI gene is mutated, the body cannot produce enough functional sucrase and isomaltase, leading to the symptoms of the disorder.

Symptoms

The symptoms of Sucrase-Isomaltase Deficiency typically begin in infancy and can vary in severity. They include diarrhea, abdominal pain, bloating, and failure to thrive. In some cases, the symptoms may not become apparent until adulthood.

Diagnosis

Diagnosis of Sucrase-Isomaltase Deficiency is often made through a combination of medical history, physical examination, and laboratory tests. These tests may include a sugar intolerance test, a biopsy of the small intestine, and genetic testing to identify mutations in the SI gene.

Treatment

There is currently no cure for Sucrase-Isomaltase Deficiency. Treatment is focused on managing the symptoms and often involves dietary modifications to avoid foods that contain the sugars that cannot be broken down. In some cases, enzyme replacement therapy may be used.

Prognosis

With appropriate management, individuals with Sucrase-Isomaltase Deficiency can lead healthy lives. However, they must continue to monitor their diet and may need to take enzyme supplements.

See Also

• Congenital sucrase-isomaltase deficiency
• Disaccharidase
• Genetic disorder
• Small intestine