Ainevahetushäiriö

Ainevahetushäiriö, also known as metabolic disorder, refers to a broad range of medical conditions that disrupt the body's normal metabolic processes. Metabolism is the complex series of chemical reactions that occur within cells to sustain life, converting food and drink into energy. When these processes are disrupted, it can lead to a buildup of substances that are toxic to the body or a lack of essential substances needed for normal function.

These disorders can be inherited, meaning they are genetic conditions passed down from parents to children. They can also be acquired later in life due to factors such as diet, lifestyle, or other illnesses. Symptoms vary widely depending on the specific type of metabolic disorder, but can include developmental delays, digestive problems, fatigue, and organ damage.

Common examples of metabolic disorders include diabetes mellitus, phenylketonuria (PKU), and thyroid disorders. Diabetes involves problems with insulin production or function, affecting blood sugar regulation. PKU is a genetic disorder where the body cannot break down an amino acid called phenylalanine. Thyroid disorders affect the hormones produced by the thyroid gland, which regulate metabolism.

Diagnosis typically involves blood and urine tests to measure levels of specific substances. Treatment strategies are tailored to the individual disorder and may include dietary changes, medication, enzyme replacement therapy, or other interventions aimed at managing symptoms and preventing complications. Early diagnosis and consistent management are crucial for improving outcomes and quality of life for individuals with ainevahetushäiriö.