Congenital sucrase-isomaltase deficiency in T ürkiye; a single center experience

CONCLUSION: In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.PMID:38459691 | DOI:10.1080/00365521.2024.2324961

Source: Scandinavian Journal of Gastroenterology - March 9, 2024 Category: Gastroenterology Authors: Do ğan Barut Ezgi K ıran Taşcı Bora Kunay Burcu G üven Bet ül Aksoy Yeliz Çağan Appak Miray Karakoyun Funda Çetin Ay şe Selimoğlu Huseyin Onay Sema Aydo ğdu Source Type: research