Related Experiment Videos
[Primary saccharose-isomaltose deficit: a 20-year case load]
G Prieto Bozano1, T Miralles Adárraga, S Carrasco Gandía
1Unidad de Gastroenterología y Nutrición, Hospital Infantil La Paz, Universidad Autónoma, Madrid.
Anales Espanoles De Pediatria
|April 1, 1990
Summary
Congenital sucrase-isomaltase deficiency, a rare genetic disorder, often presents in infants with malnutrition and dehydration. Diagnosis involves enzyme activity tests and hydrogen breath tests, revealing persistent deficiencies despite age-related symptom improvement.
Area of Science:
- Gastroenterology
- Pediatric Nutrition
- Enzymology
Context:
- Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited disorder affecting carbohydrate digestion.
- Early diagnosis is crucial for managing infant malnutrition and dehydration associated with CSID.
Purpose:
- To report on the diagnostic findings and clinical course of nine infants diagnosed with congenital sucrase-isomaltase deficiency over a twenty-year period.
Summary:
- Nine cases of CSID diagnosed before nine months of age were confirmed by jejunal mucosal homogenate enzyme analysis.
- Common findings included malnutrition, dehydration, and abnormal hydrogen breath tests post-sucrose load.
- While lactase activity was normal or elevated, maltase activity was decreased, and the enzymatic deficiency persisted despite improved clinical tolerance with age.
Impact:
- This study highlights the importance of early diagnosis and enzyme activity assessment for managing CSID in infants.
- Understanding the persistent enzymatic deficiency, even with improved tolerance, aids in long-term patient care strategies.