Background: Congenital sucrase–isomaltase deficiency is a rare hereditary cause of chronic
diarrhea in children. People with this condition lack the intestinal brush-border enzyme …

Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of
sucrose and starch components and the condition congenital sucrase-isomaltase deficiency …

Objectives: Congenital diarrheal disorders is a group of inherited enteropathies presenting
in early life and requiring parenteral nutrition. In most cases, genetics may be the key for …

Background & aims Congenital sucrase-isomaltase deficiency (CSID) is a genetic disorder
associated with mutations in the sucrase-isomaltase (SI) gene. The diagnosis of congenital …

Congenital sucrase–isomaltase (SI) deficiency is a rare genetic condition characterised by a
deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and …

Recently in Gut, several publications reported an increased prevalence of hypomorphic
(defective) sucrase-isomaltase (SI) gene variants in patients with irritable bowel syndrome …

Background Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder.
The prevalence of CSID in Chinese population is unknown and no single case has been …

Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive
disorder, has been found to have numerous genetic variants that alone or in combination …

CSID is an autosomal recessive intestinal disorder that was first described by Weijers et al in
1960 (12). It arises from mutations in the intestinal brush border enzyme complex SI. CSID …

Sucrase-isomaltase (SI) is the major disaccharidase of the small intestine, exhibiting a broad
α-glucosidase activity profile. The importance of SI in gut health is typified by the …