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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 [3]
Management:
- dietary modification
General
enzyme deficiency
References
- Peterson P
Disaccharidase Deficiency: An Overlooked Digestive Disorder.
Quest Diagnostics
http://education.questdiagnostics.com/insights/24
- Congenital Sucrase-Isomaltase Deficiency.
Genetic and Rare Diseases Information Center.
National Institutes of Health. Available at:
http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=7710#4522
- Viswanathan L, Rao SS.
Intestinal Disaccharidase Deficiency in Adults: Evaluation and Treatment.
Curr Gastroenterol Rep. 2023 Jun;25(6):134-139.
PMID: 37199899 PMCID: PMC10226910 Free PMC article. Review.