Services on Demand
Journal
Article
Indicators
- Cited by SciELO
- Access statistics
Related links
- Similars in SciELO
Share
GE-Portuguese Journal of Gastroenterology
Print version ISSN 2341-4545
Abstract
SANTOS-SILVA, Rita; TAVARES, Marta; TRINDADE, Eunice and AMIL-DIAS, Jorge. Congenital sucrase-isomaltase deficiency: A case report. GE Port J Gastroenterol [online]. 2014, vol.21, n.6, pp.250-253. ISSN 2341-4545. https://doi.org/10.1016/j.jpge.2014.07.004.
Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disease characterized by absent sucrase activity with variable decrease in isomaltase activity. The prevalence of CSID in Portuguese population is unknown and there are few reported cases. Case report: We report the case of a six-month-old male infant admitted for chronic profuse diarrhea and failure to thrive that began after food diversification. The investigation showed that he had CSID. The therapeutic option was the addition of baker’s yeast to the diet which was followed by complete resolution of symptoms and excellent weight recovery. Discussion: This case highlights the relevance of clinical observation and awareness in a condition where diagnosis is essentially clinical. The available therapeutic options are addressed with pragmatic use of baker’s yeast.
Keywords : Congenital sucrase-isomaltase deficiency; Sacrosidase; Baker’s yeast; Saccharomyces cerevisiae.