Intestinal Transporter and Enzyme Disorders

What are intestinal transporter and enzyme disorders?

Intestinal transporter and enzyme disorders are genetic diseases of the intestine that cause diarrhea and an inability to absorb nutrients. In these disorders, even though the structure of the intestine may be normal, a patient may have trouble managing certain nutrients. This is because key proteins that carry nutrients across the intestine are missing or do not function properly. Some patients can be missing enzymes that allow specific nutrients to be digested properly.

Examples may include:

  • sucrase isomaltase deficiency
  • congenital chloride diarrhea
  • glucose-galactose malabsorption
  • congenital sodium diarrhea

Infants and children with these disorders, termed congenital diarrheas, may need specialized nutrition such as glucose and galactose free formula or intravenous nutrition in order to grow normally.

What are the symptoms and causes of intestinal transporter and enzyme disorders?

Disorders involving intestinal nutrient transporters and enzymes often result in severe diarrhea. Signs of intestinal transport and enzyme disorders can appear after birth or after a child first starts feeding. Nutrients, such as carbohydrates or fats, need to be broken down by specific enzymes before being absorbed by the intestine and need special nutrient transporters to move across the lining of the intestine.

Each enzyme or transporter is specific for a certain kind of nutrient, and if they don’t work properly or are missing, they result in diarrhea.

How we care for intestinal transporter and enzyme disorders

The Boston Children’s Hospital Division of Gastroenterology, Hepatology and Nutrition has extensive experience in the caring for children with all types of intestinal transporter and enzyme disorders. We provide customized treatment plans and work closely with the Home Parenteral Nutrition team to help children overcome dietary challenges and get back to being kids again.