disaccharidase deficiency

Etiology

• lactase deficiency
• maltase deficiency
• sucrase-isomaltase deficiency

* disaccharidases produced by intestinal brush border

Pathology

• inability to digest lactose, maltose &/or sucrose
• malabsorption

Clinical manifestations

• bloat
• diarrhea
• borborygmi
• abdominal pain
• symptoms significantly overlap with irritable bowel syndrome

Laboratory

• definitive diagnosis is a small bowel biopsy (just distal to the duodenum) & small bowel enzyme tests
  • 2 biosies: 1 for histopathology, 1 for enzyme analysis
• breath testing
  • for hydrogen after sucrose challenge (will provoke symptoms)
  • C13-methane after C13-sucrose administration (will noy provoke symptoms)
• SI gene mutation

Management

• dietary modification

More general terms

• enzyme deficiency