Aineenvaihduntahäiriö

Aineenvaihduntahäiriö, or metabolic disorder, refers to a broad category of diseases that disrupt the body's normal metabolic processes. Metabolism encompasses the chemical processes that occur within a living organism in order to maintain life. These processes involve breaking down nutrients from food to produce energy, or building and repairing body tissues. When a metabolic disorder occurs, one or more of these vital chemical processes function improperly.

Metabolic disorders can be inherited, meaning they are caused by a genetic mutation passed down from parents to children. These inherited disorders are often referred to as inborn errors of metabolism. Examples include phenylketonuria (PKU), galactosemia, and Tay-Sachs disease. Acquired metabolic disorders, on the other hand, develop later in life due to factors such as diet, lifestyle, infections, or exposure to toxins. Diabetes mellitus, thyroid disorders, and certain liver diseases are examples of acquired metabolic conditions.

Symptoms of metabolic disorders vary widely depending on the specific condition. They can range from mild and non-specific, such as fatigue or digestive issues, to severe and life-threatening, including developmental delays, organ damage, or seizures. Diagnosis typically involves a combination of medical history, physical examination, blood and urine tests, and sometimes genetic testing. Treatment strategies are also diverse and aim to manage the disorder, prevent complications, and improve the patient's quality of life. This can involve dietary modifications, medications, enzyme replacement therapy, or lifestyle changes.