Diszacharidázhiány

Diszacharidázhiány is a group of genetic disorders characterized by a deficiency in the enzymes responsible for breaking down disaccharides. Disaccharides are sugars composed of two monosaccharides, and their proper digestion is crucial for nutrient absorption. The most common types of disaccharidázhiány involve deficiencies in enzymes that break down lactose, sucrose, or maltose.

Lactase deficiency, or lactose intolerance, is the most prevalent form. It results from insufficient lactase, the enzyme needed to hydrolyze lactose into glucose and galactose. Symptoms typically include bloating, gas, abdominal pain, and diarrhea after consuming dairy products. This condition can be congenital, primary (developing later in life), or secondary due to intestinal damage.

Sucrase-isomaltase deficiency is another significant type, caused by a lack of sucrase-isomaltase enzyme. This enzyme is responsible for breaking down sucrose into glucose and fructose, and also maltose into glucose. Individuals with this deficiency experience symptoms similar to lactose intolerance, particularly after consuming foods containing sucrose, such as fruits and table sugar.

Maltase deficiency is less common but also leads to digestive issues. It involves a reduced ability to break down maltose, a sugar often found in starchy foods and produced during starch digestion. The resulting undigested disaccharides can ferment in the gut, causing discomfort.

Diagnosis of diszacharidázhiány usually involves hydrogen breath tests or genetic testing. Management focuses on dietary modification, such as avoiding or limiting the intake of specific disaccharides. Enzyme replacement therapy is also an option for some forms of the condition.