Diagnosis

Important Diagnostic Information

Most patients with Genetic Sucrase-Isomaltase Deficiency/Congenital Sucrase-Isomaltase Deficiency begin their diagnosis journey at their pediatrician or primary care physician’s office. Primary care physicians may diagnose patients with more common causes of diarrhea, such as toddler’s diarrhea, irritable bowel syndrome, parasites or intestinal infections. When treatments such as antibiotics for these more common conditions do not alleviate symptoms, the physician will refer the patient to a gastroenterologist, a physician who specializes in digestive dysfunction.

The gastroenterologist will perform a routine analysis of patient well-being, including a physical examination, clinical history, family history and diet history, and may order tests to determine the exact diagnosis. With rare diseases, such a discovery process is often needed to systematically eliminate the possibility of more common ailments. If Genetic Sucrase-Isomaltase Deficiency is suspected, the diagnostic workup could include an upper gastrointestinal endoscopy, in which several biopsies (tissue specimens) are obtained from the small intestine and sent for a specialized laboratory analysis of enzymatic activity. A laboratory analysis to determine sucrase-isomaltase activity is commonly known as a disaccharidase assay via a small bowel biopsy. The measurement of intestinal disaccharidases (lactase, sucrase, isomaltase or palatinase, and maltase) through a small bowel biopsy is considered the gold standard for diagnosing Genetic Sucrase-Isomaltase Deficiency.

Depending on the age of the patient, the treating physician may decide that the endoscopic procedure is not appropriate. The physician may try different tests which may help in diagnosing GSID/CSID. Some of these tests are listed in the table below. For example, the physician may order a sucrose hydrogen breath test, which measures the level of hydrogen in the breath to help aid in the diagnosis of gastrointestinal disorders. In the human gut, only a specific type of bacteria in the large intestine is capable of producing hydrogen. The bacteria produce hydrogen when they are exposed to unabsorbed food, particularly sugars and carbohydrates. Large amounts of hydrogen may be produced when there is a problem with the digestion or absorption of food in the small intestine, allowing more unabsorbed food to reach the large intestine. An increase in breath hydrogen output, then, suggests that small intestinal enzymes are not working properly although the physician will still have to determine if this is due to GSID/CSID. The sucrose hydrogen breath test is noninvasive, short in duration and can be administered by the patient at home. Patients with sucrase deficiency may experience symptoms due to the large consumption of sucrose. A free Sucrose Intolerance Hydrogen Breath Test is available through your healthcare provider. For more information or to order a test kit, call 1-800-705-1962.

Testing Methods to Aid in the Diagnosis of Genetic Sucrase-Isomaltase Deficiency (GSID)

Test Method
Info Regarding Test Method
Disaccharidase Assay
  • Gold standard for diagnosing GSID
  • Additional tissue sample is obtained from the distal duodenum or proximal jejunum at the time of endoscopy
  • Assay is only performed by a certain number of labs
Free Sucrose Breath Test
  • The test is noninvasive, short in duration and capable of being administered by the patient at home
  • A healthcare professional can order the test by calling 1-800-705-1962
  • Patients follow the simple test instructions included in each kit and ship the test kit back via a pre-paid shipping label. Test results will be provided to the physician’s office within 24 hours of receiving the test kit
  • Patients with sucrase deficiency may experience symptoms due to the large consumption of sucrose
Free SI Genetic Test
  • When sucrase activity is <25 μM/min/g
  • If disaccharidase assay results are not available for patients with long-term chronic diarrhea and/or abdominal pain, and other common GI disorders have been excluded
  • To order an SI Genetic Test kit call 1-800-705-1962
  • A positive genetic test supports the diagnosis of GSID. The test evaluates for the presence of 37 known pathogenic variants
  • A negative test result demonstrates the absence of one or more of these variants. However, other unidentified pathogenic variants may exist, so a negative test is not conclusive for absence of the disease
4-4-4 Simple Oral Sugar Challenge
  • The test is short, simple and can be performed in the privacy of the patient’s home
  • Step 1: Stir 4 tablespoons of ordinary table sugar into a 4-ounce glass of water. Mix until sugar is completely dissolved
  • Step 2: Drink it on an empty stomach
  • Step 3: See if symptoms such as bloating, gas and diarrhea occur during the next 4-8 hours; this suggests sucrose intolerance is possible
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