Congenital sucrase-isomaltase deficiency (CSID)
Autozomálně recesivní · 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.
Co se diagnózou změní
Dietary restriction of sucrose and starch, with sacrosidase enzyme replacement, controls symptoms, and a diagnosis can explain long-standing IBS-like symptoms.
Analyzované geny
Známé také jako
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
Zahrnuje 6 příbuzných podtypů ↓Skrýt podtypy ↑
- 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
