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[Congenital saccharase-isomaltase deficiency: a six-year survey (author's transl)]
Insights
Saccharase-isomaltase deficiency in children causes failure to thrive and diarrhea. A saccharose-free diet or enzyme therapy can improve tolerance, with many children outgrowing the condition by age three.
Area of Science:
- Gastroenterology
- Pediatric Nutrition
- Enzyme Deficiencies
Context:
- Saccharase-isomaltase deficiency is a rare genetic disorder affecting carbohydrate digestion.
- Diagnosis in infants and young children often presents with failure to thrive and recurrent diarrhea.
- Requires specialized diagnostic approaches beyond standard intestinal biopsy.
Purpose:
- To describe the clinical presentation and diagnostic findings of saccharase-isomaltase deficiency in a cohort of five children.
- To evaluate the efficacy of dietary management and enzyme replacement therapy.
- To observe the natural progression and long-term outcomes of the condition.
Summary:
- Five children diagnosed with saccharase-isomaltase deficiency presented with failure to thrive and recurrent diarrhea between six and twenty-two months of age.
- Diagnosis was confirmed by abnormal oral saccharose loading tests and reduced intestinal enzyme activity, despite normal small-intestinal mucosa.
- Treatment involved a saccharose-free diet or the enzyme preparation Bi-Myconase, leading to improved tolerance and resolution of symptoms by early childhood.
Impact:
- Highlights the importance of considering enzyme deficiencies in pediatric digestive disorders.
- Demonstrates successful management strategies, including dietary modification and enzyme therapy.
- Suggests that many children may outgrow saccharase-isomaltase deficiency, reducing the need for long-term special treatment.
Abstract:
Saccharase-isomaltase deficiency was discovered in five children. The diagnosis was made on the basis of an abnormal oral saccharose loading response and demonstrating decreased activity of intestinal saccharase and isomaltase in the presence of normal small-intestinal mucosa. Three children failed to thrive, and all had recurrent diarrhoea. The diagnosis was made in children aged six to twenty-two months. Treatment consisted of saccharose-free diet or feeding with an enzyme preparation, Bi-Myconase. Saccharose-containing foods were increasingly tolerated beyond the second year of life so that children aged 2 1/2 to 3 1/4 years no longer required special treatment.