Could It Be CSID?
Disease • Diagnosis • Trial Rx
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Disease
What is Congenital Sucrase-Isomaltase Deficiency?
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare disorder caused by variants of the sucrase-isomaltase (SI) gene that code for dysfunctional forms of the enzyme. SI digests sucrose and maltose to enable absorption. Failure to absorb either causes postprandial colonic fermentation and osmotic diarrhea. Children with CSID face unique challenges to their growth and development. When a patient presents with chronic diarrhea, excess flatulence, bloating, and abdominal pain, it could be CSID.
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Diagnosis
How to Diagnose CSID
CSID is largely a clinical diagnosis.
Disaccharidase Assay
A disaccharidase assay using the substrate sucrose can detect deficient sucrase activity when it occurs in EGD-biopsied tissue.
Sucrose Breath Tests
Breath tests (hydrogen-methane and 13C-sucrose) quantify the ability to digest sucrose by measuring the metabolic products of sucrose digestion in exhaled air.
4-4-4 Simple Oral Sugar (Sucrose) Challenge
A qualitative assessment of the ability to digest sugar can be made by observing, over a 4-hour period, the GI response to drinking a solution of 4 tablespoons of sugar dissolved in 4 ounces of water. Individuals with CSID may experience severe GI symptoms. Thus, this test is not appropriate for infants, young children, diabetics, or the elderly.
Therapeutic Response Trial
Candidates for a brief therapeutic trial of sacrosidase, enzyme replacement for sucrase, include GI patients suspected of CSID who are not eligible for an EGD to obtain tissue for disaccharidase assay, or those with a suspected but unconfirmed diagnosis of CSID. Patients with CSID should experience significant relief of GI symptoms when taking sacrosidase. Sacrosidase is contraindicated in patients known to be hypersensitive to yeast, yeast products, glycerin (glycerol), or papain.
Unless combined with a clinical history of chronic, postprandial GI symptoms and/or normal small bowel histology, none of these diagnostic tests, which detect sucrase deficiency, are able to differentiate between primary sucrase deficiency, which is a part of CSID, and secondary or acquired sucrase deficiency.
Trial Rx
Download a 4-Day Trial Rx Form
Sucraid® 4-Day Trial (4DT) offers eligible patients a short therapeutic trial of Sucraid® (sacrosidase) Oral Solution to assess response in patients suspected of having congenital sucrase-isomaltase deficiency (CSID) to help confirm a CSID diagnosis.