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
See if Sucraid® is right for your patients diagnosed
with CSID.
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.
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.
Disaccharidase (including sucrase) assay via small bowel biopsy
Contact your local Quest Diagnostics® or LabCorp representative
13C-sucrose breath test (13C-SBT)
Metabolic Solutions, 1-603-598-6960
Sucrose hydrogen-methane breath test
Aerodiagnostics™, 1-617-608-3832
Commonwealth Labs, 1-888-258-5966
Metabolic Solutions, 1-603-598-6960
Trio-Smart®, 1-855-888-1230
Food Marble, [email protected]
Find out more: sucrosechallenge.com
Congenital Sucrase-Isomaltase Deficiency (SI Gene) Test
Contact your local genetic testing lab