[Primary saccharose-isomaltose deficit: a 20-year case load]

In the last twenty years we have diagnosed 9 cases of congenital sucrase-isomaltase deficiency. In all the cases the diagnosis was made before 9 months of age and was confirmed by quantitative determination of sucrase-isomaltase activity in jejunal mucosal homogenates. Malnutrition and dehydration were frequent findings. In 3 cases there was clinical intolerance to dextrinomaltose and to glucose polymers. In the 6 cases in which were performed, abnormal breath H2 test after an oral sucrose load was found. Lactase activity was above the mean in all cases and an important decrease of maltase activity was demonstrated. The enzymatic deficiency persisted even though the clinical tolerance to sucrase improved with age.