Diagnosis
How is Congenital Sucrase-Isomaltase Deficiency Diagnosed?
It is easy to misdiagnose Congenital Sucrase-Isomaltase Deficiency (CSID), especially if the patient presents with nonspecific symptoms. A correct diagnosis of CSID may be delayed while other, more common causes of severe chronic diarrhea are considered.1
CSID is largely a clinical diagnosis.
In This Section
Infants with CSID are often misdiagnosed with food allergies or intolerance to cow’s milk or soy protein. An improvement in symptoms while ingesting a casein-hydrosylate formula may be interpreted as further proof for this mistaken diagnosis when the response actually reflects the switch from dietary carbohydrates to dietary glucose polymers, which are not dependent on sucrase-isomaltase activity for digestion.1
Once the patient outgrows infancy and a larger variety of foods is added to the diet, it becomes increasingly more difficult to correctly identify sucrose as the explicit cause of gastrointestinal (GI) symptoms. In addition, there may be a high incidence of comorbidity between CSID and other enzyme deficiencies involved in carbohydrate digestion.
Such comorbidities and/or misdiagnoses may include allergic gastroenteropathy, cystic fibrosis, celiac disease, severe viral gastroenteritis, lactose intolerance, glucose-galactose intolerance, or other causes of intractable diarrhea. The presence of mild steatorrhea is commonly used to support these alternate diagnoses.1
As the table below indicates, there are several tests that may help in the diagnosis of CSID.
Table 1.
Diagnostic Tools to Assess Sucrase Enzyme Activity
While no test on the market today is 100% accurate, and current tests, including genetic testing, cannot rule out secondary sucrase deficiency, several options are available to help assess the likelihood of a CSID diagnosis.
Test
Access
Commonwealth Labs, 1-888-258-5966
Metabolic Solutions, 1-603-598-6960