Sucrase-isomaltase deficiency
What is it?
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects the ability to break down and digest sucrose and maltose, which are types of sugars. The condition is caused due to mutation in the SI gene which codes to the production of the enzyme sucrase-isomaltase. This disorder usually becomes apparent when a child starts to eat fruits and grains and it causes him diarrhea and abdominal cramps. These may lead to malnutrition and failure to thrive. Typically, the ability to break down these sugars gets better when the person grows older.
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Signs & symptoms
Symptoms may include chronic and watery diarrhea, abdominal swelling, gassiness, irritability, scartched and reddened buttocs, diaper rash, vomiting and failure to thrive.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include a biopsy from the small intestine.
Treatment
There is no cure for congenital sucrase-isomaltase deficiency and the treatment focuses on a low-sucrose or sucrose light diet. Furthermore, in the first few years of life a low starch diet is usually recommended.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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