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What are the symptoms of Congenital Sucrase-Isomaltase Deficiency?

The clinical presentation of Congenital Sucrase-Isomaltase Deficiency (CSID) can vary from mild to severe chronic, watery diarrhea and/or abdominal cramps.

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Figure 1. Distribution of presenting symptoms of CSID in twenty-three pediatric patients1

Often, symptoms do not manifest in infants until they begin to ingest sucrose and starch-containing foods (for example, juices, solid foods, and medications sweetened with sucrose).

Chronic, watery diarrhea and failure to thrive are the most common symptoms in infants and toddlers. Other manifestations include abdominal distention, gassiness, colic, irritability, excoriated buttocks, diaper rash, and vomiting.

In some populations, notably indigenous people of Greenland and Alaska, a low-carbohydrate, high-protein, high-fat diet may delay the development of CSID symptoms.2 A small number of patients may require hospitalization for diarrhea and dehydration, malnutrition, muscle wasting, and weakness.1-3 Patients with confirmed CSID commonly report being examined in the past for toddler’s diarrhea, lactose intolerance, celiac disease, cystic fibrosis, or food allergies.1,4

The gastrointestinal (GI) symptoms associated with CSID tend to persist in adults because CSID is not a disease that a patient can outgrow. Symptoms may appear less severe in adults compared to those experienced by children. In some adults, symptoms may be limited to an increase in bowel movement frequency, abdominal distention, and flatulence. Episodic watery diarrhea upon ingestion of high levels of sucrose may occur.1 In certain patients, diarrhea may alternate with constipation, leading to a misdiagnosis of CSID as other GI conditions.

As with pediatric patients, the clinical presentation in adults varies dramatically from patient to patient. Some patients with CSID may experience several severe symptoms in response to consumption of sucrose, while others may experience only mild discomfort.

Symptoms consistent 
with a diagnosis of CSID

Individuals with Congenital Sucrase-Isomaltase Deficiency (CSID) typically have one or more of the following symptoms:

  1. Chronic diarrhea and/or loose stools (more severe or explosive in young children or babies after they have stopped breastfeeding)
  2. High frequency of bowel movements (BMs)
  3. Reports of particularly foul BM odor related to poor absorption of carbohydrates
  4. Gas and abdominal bloating
  5. Abdominal cramps
  6. Complaints of nausea or indigestion
  7. Diarrhea mixed with intermittent constipation, particularly when chronically taking common drugs to stop diarrhea
  8. Onset of symptoms soon after consuming a meal
  9. A low body mass index (BMI) that falls below the age-appropriate growth chart curve or failure to thrive when very young
  10. Avoidance or intolerance of foods containing carbohydrates, particularly sugary sweets or starches (for example, potatoes, rice, pasta)
  11. Lack of relief from treatment with common drugs to stop diarrhea
  12. Long history of examinations by multiple gastroenterologists for unusual GI conditions with symptoms similar to CSID, such as inflammation of the gall bladder (cholecystitis); intolerance of foods containing gluten (proteins found in grains), called celiac disease; an inherited disorder that impairs the secretion of mucus, called cystic fibrosis; and impaired absorption of bile acid (naturally-occurring molecule that helps the body break down fats); all these conditions also may cause chronic diarrhea

Since CSID is an inherited disorder, other family members may also be affected:

  1. Parents and/or siblings may have similar GI symptoms after a meal
  2. They may avoid eating carbohydrates and sweet foods
  1. Individuals with CSID may experience GI symptoms frequently (several times a week or every day).
  2. Onset of symptoms is shortly after eating a meal.
  3. Symptoms have been a problem for a very long time (since childhood or for many years); in children, symptoms may start when no longer breastfeeding, with increased consumption of dietary carbohydrates in baby foods.

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References
  1. Treem WR. Congenital Sucrase-Isomaltase Deficiency. J Pediatr Gastroenterol Nutr. 1995;21(1):1-14. doi:10.1097/00005176-199507000-00001
  2. Gudmand-Høyer E. Sucrose malabsorption in children: a report of thirty-one Greenlanders. J Pediatr Gastroenterol Nutr. 1985;4(6):873-877. doi:10.1097/00005176-198512000-00005
  3. Antonowicz I, Lloyd-Still JD, Khaw KT, Shwachman H. Congenital Sucrase-Isomaltase Deficiency. Observations over a period of 6 years. Pediatrics. 1972;49(6):847-853.
  4. Treem WR. Clinical aspects and treatment of Congenital Sucrase-Isomaltase Deficiency. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S7-S13. doi:10.1097/01.mpg.0000421401.57633.9
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Important Safety Information for Sucraid® (sacrosidase) Oral Solution
Indication

Sucraid® (sacrosidase) Oral Solution is indicated for the treatment of sucrase deficiency, which is part of congenital sucrase-isomaltase deficiency (CSID), in adult and pediatric patients 5 months of age and older.

Contraindication

Sucraid® is contraindicated in patients known to be hypersensitive to yeast, yeast products, glycerin (glycerol), or papain.

Warnings, Precautions, and Additional Important Safety Information
  • Severe Hypersensitivity Reactions
    Severe hypersensitivity reactions, including wheezing, difficulty breathing, rash, pruritis, and swelling of the face, lips, mouth, or tongue have been reported with administration of Sucraid®. Sucraid® contains papain, which is associated with hypersensitivity reactions.
  • Increased Blood Glucose Concentration in Patients With Diabetes Mellitus
    Sucraid® enables the products of sucrose hydrolysis, glucose and fructose, to be absorbed and may increase blood glucose concentrations. Monitor blood glucose concentrations and adjust the diet accordingly for patients with diabetes mellitus.
  • Dietary Starch Restriction
    Sucraid® does not replace isomaltase. Therefore, patients may still experience symptoms of CSID while taking Sucraid®. Consider dietary starch restriction in addition to Sucraid®, especially in patients in whom symptoms are not adequately controlled by Sucraid®.
  • Adverse reactions as a result of taking Sucraid® may include worse abdominal pain, vomiting, nausea, diarrhea, constipation, difficulty sleeping, headache, nervousness, and dehydration.
  • The effects of Sucraid® have not been evaluated in patients with secondary (acquired) disaccharidase deficiency.
  • DO NOT HEAT SOLUTIONS CONTAINING SUCRAID®. Do not put Sucraid® in warm or hot fluids. Do not reconstitute or consume Sucraid® with fruit juice since the acidity of the juice may reduce the enzyme activity of Sucraid®. Half of the reconstituted Sucraid® should be taken at the beginning of the meal or snack and the other half during the meal or snack.
  • Sucraid® should be refrigerated at 36°F-46°F (2°C-8°C) and should be protected from heat and light; single-use containers can be removed from refrigeration and stored at 59°F-77°F (15°C-25°C) for up to 3 days (72 hours). Refer to Instructions for Use for full information on how to take Sucraid®.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.

IMPORTANT SAFETY INFORMATION:

Important Safety Information for Sucraid® (sacrosidase) Oral Solution

Indication

Sucraid® (sacrosidase) Oral Solution is indicated for the treatment of sucrase deficiency, which is part of congenital sucrase-isomaltase deficiency (CSID), in adult and pediatric patients 5 months of age and older.

Contraindication

Sucraid® is contraindicated in patients known to be hypersensitive to yeast, yeast products, glycerin (glycerol), or papain.

Warnings, Precautions, and Additional Important Safety Information

  • Severe Hypersensitivity Reactions
    Severe hypersensitivity reactions, including wheezing, difficulty breathing, rash, pruritis, and swelling of the face, lips, mouth, or tongue have been reported with administration of Sucraid®. Sucraid® contains papain, which is associated with hypersensitivity reactions.
  • Increased Blood Glucose Concentration in Patients With Diabetes Mellitus
    Sucraid® enables the products of sucrose hydrolysis, glucose and fructose, to be absorbed and may increase blood glucose concentrations. Monitor blood glucose concentrations and adjust the diet accordingly for patients with diabetes mellitus.
  • Dietary Starch Restriction
    Sucraid® does not replace isomaltase. Therefore, patients may still experience symptoms of CSID while taking Sucraid®. Consider dietary starch restriction in addition to Sucraid®, especially in patients in whom symptoms are not adequately controlled by Sucraid®.
  • Adverse reactions as a result of taking Sucraid® may include worse abdominal pain, vomiting, nausea, diarrhea, constipation, difficulty sleeping, headache, nervousness, and dehydration.
  • The effects of Sucraid® have not been evaluated in patients with secondary (acquired) disaccharidase deficiency.
  • DO NOT HEAT SOLUTIONS CONTAINING SUCRAID®. Do not put Sucraid® in warm or hot fluids. Do not reconstitute or consume Sucraid® with fruit juice since the acidity of the juice may reduce the enzyme activity of Sucraid®. Half of the reconstituted Sucraid® should be taken at the beginning of the meal or snack and the other half during the meal or snack.
  • Sucraid® should be refrigerated at 36°F-46°F (2°C-8°C) and should be protected from heat and light; single-use containers can be removed from refrigeration and stored at 59°F-77°F (15°C-25°C) for up to 3 days (72 hours). Refer to Instructions for Use for full information on how to take Sucraid®.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.

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