Stoffwechselstörungen

Stoffwechselstörungen, also known as metabolic disorders, are a group of diseases that disrupt normal bodily chemical processes. These processes, collectively known as metabolism, involve breaking down nutrients from food to produce energy, or building complex molecules needed for growth and repair. When a metabolic disorder occurs, a specific enzyme or metabolic pathway is faulty, leading to a buildup of harmful substances or a deficiency of essential ones.

These disorders can be inherited, meaning they are caused by genetic mutations passed down from parents, or they can be acquired later in life due to environmental factors or other diseases. Inherited metabolic disorders are often rare and can affect various bodily functions, including brain development, energy levels, and organ function. Examples include phenylketonuria (PKU), galactosemia, and Tay-Sachs disease. Acquired metabolic disorders can include conditions like diabetes mellitus, which affects how the body uses glucose, or disorders of lipid metabolism.

Symptoms of Stoffwechselstörungen vary widely depending on the specific condition and its severity. They can range from mild and unnoticeable to severe and life-threatening. Common symptoms may include developmental delays, feeding difficulties, fatigue, organ damage, and distinctive physical features. Diagnosis often involves blood and urine tests, genetic screening, and sometimes imaging studies. Treatment strategies are tailored to the individual disorder and may include dietary modifications, enzyme replacement therapy, medication, or in some cases, organ transplantation. Early diagnosis and intervention are crucial for managing Stoffwechselstörungen and improving patient outcomes.