Galaktoseämischer

Galaktoseämischer refers to a condition characterized by the presence of excess galactose in the blood. Galactose is a simple sugar that is a component of lactose, the sugar found in milk. Normally, the body breaks down galactose into glucose, which is then used for energy. However, in individuals with certain metabolic disorders, this breakdown process is impaired, leading to a buildup of galactose.

The most common cause of galaktoseämischer is galactosemia, a rare genetic disorder. There are different types of galactosemia, each caused by a deficiency in a specific enzyme required for galactose metabolism. The most severe form, classic galactosemia, is due to a deficiency of the enzyme GALT. Without this enzyme, galactose-1-phosphate accumulates in the body, leading to toxic effects on various organs, including the liver, brain, and eyes.

Symptoms of galaktoseämischer, particularly in classic galactosemia, can appear shortly after birth once milk-based formulas or breast milk are introduced. These symptoms may include vomiting, diarrhea, poor weight gain, lethargy, and jaundice. If left untreated, it can lead to severe health problems such as liver damage, developmental delays, cataracts, and intellectual disability.

Diagnosis is typically made through newborn screening programs that test for elevated galactose levels. Confirmation is usually done through genetic testing to identify the specific enzyme deficiency. The primary treatment for galaktoseämischer is a strict, lifelong lactose-free and galactose-free diet. This involves avoiding all dairy products and foods containing lactose or galactose. Early diagnosis and adherence to dietary restrictions are crucial for preventing long-term complications and ensuring a healthy development for affected individuals.