Congenital sucrase-isomaltase deficiency (CSID)
Autoszomális recesszív · Rare in most populations, but estimated at about 3 to 10% of Greenlandic and Canadian Inuit.
A deficiency of the sucrase-isomaltase enzyme, caused by SI variants, that impairs digestion of sucrose and some starches.
Mit változtat a diagnózis
Dietary restriction of sucrose and starch, with sacrosidase enzyme replacement, controls symptoms, and a diagnosis can explain long-standing IBS-like symptoms.
Vizsgált gének
Más néven
congenital sucrose intolerance; congenital sucrose-isomaltase malabsorption; CSID; disaccharide intolerance; disaccharide intolerance, 1; genetic sucrase-isomaltose malabsorption; sucrase-isomaltase deficiency; sucrase-isomaltase deficiency, congenital; sucrose isomaltose enzyme deficiency
6 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- congenital sucrase-isomaltase deficiency with minimal starch tolerance
- congenital sucrase-isomaltase deficiency with starch and lactose intolerance
- congenital sucrase-isomaltase deficiency with starch intolerance
- congenital sucrase-isomaltase deficiency without starch intolerance
- congenital sucrase-isomaltase deficiency without sucrose intolerance
- global disaccharide intolerance
