What is the management plan for patients with Congenital Sucrase-Isomaltase Deficiency (CSID)?

Management of Congenital Sucrase-Isomaltase Deficiency (CSID)

The management of Congenital Sucrase-Isomaltase Deficiency (CSID) requires enzyme replacement therapy with sacrosidase (Sucraid) as the primary treatment, combined with dietary modifications to control symptoms and improve quality of life.

Diagnosis Confirmation

Before initiating treatment, confirm diagnosis through:

• Disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically (gold standard) 1
• Alternative diagnostic options:
  • Sucrose hydrogen breath test (less practical in young children) 2
  • Genetic testing for SI gene mutations 3, 1
  • Clinical trial of sacrosidase (may become an alternative to endoscopic biopsies) 2

Primary Treatment Approach

1. Enzyme Replacement Therapy

• Sacrosidase (Sucraid) administration:
  • Dosing based on weight:
    • Patients ≤15 kg: 1 mL per meal/snack
    • Patients >15 kg: 2 mL per meal/snack 4
  • Administration:
    • Take with water, milk, or infant formula
    • Do not mix with fruit juices (acidity reduces enzyme activity) 5
    • Administer with each meal or snack containing sucrose 5

2. Dietary Management

• Sucrose restriction tailored to individual tolerance 1
• Potential starch restriction, especially in patients whose symptoms are not adequately controlled by sacrosidase alone 5
• Work with a metabolic dietitian to:
  • Balance nutritional needs with dietary restrictions
  • Prevent overtreatment and feeding issues
  • Ensure adequate growth and development 6

Monitoring and Follow-up

• Regular assessment of:
  • Symptom control (diarrhea, abdominal pain, bloating, gas)
  • Growth parameters (height, weight, weight/height ratio, BMI)
  • Nutritional status
  • Treatment adherence
  • Blood glucose in diabetic patients (sacrosidase enables absorption of glucose and fructose) 5

Special Considerations

Pediatric Patients

• Monitor for feeding issues and developmental transitions:
  • Formula to baby food
  • Baby food to table food
  • Bottle to cup 6
• Address potential feeding difficulties early:
  • Refer to speech or occupational therapist if needed
  • Consider psychological evaluation if psychosocial issues are apparent 6

Adult Patients

• CSID may remain undiagnosed until adulthood, presenting with IBS-like symptoms 7, 1
• Same treatment principles apply (enzyme replacement and dietary modifications)

Pregnancy

• Plan ahead with the metabolic team to optimize nutrition
• Adjust diet and enzyme dosing based on close monitoring
• Coordinate care between metabolic team and high-risk obstetrics 6

Expected Outcomes

• Significant reduction in symptoms with sacrosidase administration:
  • Decreased number of stools
  • More formed stools
  • Reduced abdominal pain, bloating, and gas 4
• Improved growth and development in children
• Enhanced quality of life

Common Pitfalls and Caveats

1. Overtreatment risks:

   • Excessive weight gain
   • Hyperinsulinemia and insulin resistance
   • Worsening lactic acidosis
   • Gastrointestinal disturbances 6

2. Incomplete symptom control:

   • Sacrosidase replaces sucrase but not isomaltase activity
   • Some patients may still require starch restriction 5

3. Administration errors:

   • Mixing with fruit juice (reduces effectiveness)
   • Taking too close to meal time (may reduce appetite) 6, 5

4. Delayed diagnosis:

   • CSID may be misdiagnosed as irritable bowel syndrome or other functional disorders
   • Consider CSID in patients with persistent bloating, diarrhea, and abdominal pain, especially after consuming fruits and starches 7, 1

By implementing this comprehensive management approach, most patients with CSID can achieve significant symptom control and improved quality of life.