Open AccessCongenital Sucrase‐Isomaltase Deficiency
Author(s) -
Chumpitazi Bruno P.,
RobayoTorres Claudia C.,
Opekun Antone R.,
Nichols Buford L.,
Naim Hassan Y.
Publication year - 2012
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/01.mpg.0000421409.65257.fc
Subject(s) - disaccharidase , sucrase , medicine , sucrose , endocrinology , enzyme , food science , biochemistry , biology , small intestine
Evaluation for congenital sucrase-isomaltase deficiency (CSID) historically has been performed using duodenal enzyme disaccharidase assays, in which the Dahlqvist method is used to assess the activities of the disaccharidases in vitro (1, 2). Meanwhile, noninvasive means have been developed to test for CSID (3). One of these methods is the 13C-based breath test, the results of which have been found to correlate well with duodenal mucosal enzyme analysis (4). Another approach is SI exome genetic sequencing, which has identified both homozygous mutations and compound heterozygote mutations that cause CSID (5–7).