Intestinal Transporter and Enzyme Disorders | Diagnosis & Treatment

How are intestinal transporter and enzyme disorders diagnosed?

Testing for these involves a number of steps. First doctors will test to determine the kind of diarrhea involved and which nutrients cannot be absorbed. If they suspect one of these disorders they may recommend a trial of a specialized formula. They will also need to look at a sample of the tissue in the small intestine. To do this they will need to perform a procedure called an endoscopy — a procedure which uses a small flexible viewing tube to look at the intestine and obtain tiny tissue samples (biopsies).

One of the main ways of diagnosing these disorders is through genetic testing to see whether there are any differences in the genes known to cause intestinal transporter and enzyme disorders.

What are the treatment options for intestinal transporter and enzyme disorders

There are a variety of nutritional therapies for these disorders including specialized formulas and parenteral nutrition. Before introducing proper treatment, first we need to find out which nutrient is involved. We accomplish this by introducing different dietary challenges.

We determine which nutrient is involved, we may remove the nutrient from the child’s formula or diet. Sometimes we will need to provide nutrition directly using intravenous line (IV) nutrition. Our focus of treatment revolves around long-term maintenance of nutrition and optimizing growth and development.