Sucrase-isomaltase deficiency-a frequently misdiagnosed disease
Ament, M.E.; Perera, D.R.; Esther, L.J.
Journal of Pediatrics 83(5): 721-727
1973
ISSN/ISBN: 0022-3476 PMID: 4742566 Document Number: 61103
In 4 families 7 members had sucrase-isomaltase deficiency which had been incorrectly diagnosed in 6 of them for from 11 to 93 months. Only 2 mothers have a history implicating foods containing sucrose. Chronic or intermittent watery diarrhoea was the primary sign in 6 of the 7. Diagnosis was established by sucrose tolerance tests and confirmed by estimation of disaccharidases in biopsy samples of the small intestine. Treatment with a diet low in sucrose reversed all symptoms within 24 h.