INTESTINAL SUCRASE AND ISOMALTASE DEFICIENCY IN TWO SIBLINGS

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Abstract
The absence of sucrase and isomaltase activity from the duodenal mucosa of two siblings has been demonstrated in biopsy specimens obtained via the oral route. Some of the problems of diagnosis of intestinal saccharidase deficiencies by indirect methods are described and the advantages of direct demonstration of enzyme deficiency pointed out. The possibility that intestinal saccharidase deficiency plays a role in some of the ill-defined cases of subacute or chronic diarrhea of infancy, such as those diagnosed as starch intolerance or cows' milk allergy, has been discussed. Some of the genetic implications of this condition have been discussed in the light of our observations and those of other authors.
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