Congenital Sucrase-Isomaltase Deficiency

Congenital Sucrase-Isomaltase Deficiency

Congenital sucrase-isomaltase deficiency is a genetic disorder impairing the digestion of certain sugars. Symptoms typically include diarrhoea, abdominal pain, and bloating. Diagnosis involves enzyme activity tests and genetic analysis. Treatment often includes dietary adjustments, such as avoiding sucrose and starch, and enzyme replacement therapy. Congenital sucrase-isomaltase deficiency is rare but manageable.