anyagcsererendellenességekkel

Anyagcsere-rendellenességek, or metabolic disorders, are a group of diseases that disrupt the body's normal chemical processes. These processes, collectively known as metabolism, involve breaking down food into energy and building and repairing tissues. When these processes malfunction, it can lead to a buildup of harmful substances in the body or a deficiency of essential ones.

These disorders can be inherited, meaning they are passed down through families, or they can be acquired later in life. Inherited metabolic disorders are often caused by a defect in a single gene that leads to a missing or faulty enzyme. Enzymes are proteins that speed up chemical reactions in the body, and without them, certain metabolic pathways cannot function properly. Acquired metabolic disorders can result from various factors, including diet, toxins, infections, or other diseases.

Symptoms of metabolic disorders vary widely depending on the specific condition. Some common signs include developmental delays, intellectual disability, seizures, feeding problems, vomiting, fatigue, and distinctive body odors. In many cases, early diagnosis and intervention are crucial to prevent or minimize long-term health complications. Treatment often involves specialized diets, medication, or enzyme replacement therapy. Research continues to identify new metabolic disorders and develop more effective treatments.