Enzimbetegség

Enzimbetegség, also known as metabolic disorder or inborn error of metabolism, refers to a group of genetic disorders caused by a defect in a specific enzyme. Enzymes are proteins that act as catalysts, speeding up chemical reactions in the body that are essential for life. When a gene responsible for producing a particular enzyme is mutated, the enzyme may be absent, produced in insufficient quantities, or function improperly. This leads to a buildup of certain substances or a deficiency of others, disrupting normal metabolic processes.

The consequences of enzymatic deficiencies vary widely depending on the specific enzyme affected and the severity of the mutation. Some enzyme deficiencies have mild symptoms and may go unnoticed, while others can lead to severe health problems, including intellectual disability, organ damage, and developmental delays. Many of these conditions are present at birth, though symptoms might not appear until later in life. Diagnosis often involves newborn screening programs, blood and urine tests, and genetic testing. Treatment strategies are tailored to the specific enzyme deficiency and may include dietary modifications, enzyme replacement therapy, or medications to manage symptoms. Early diagnosis and intervention are crucial for improving outcomes and managing the long-term health of individuals with enzyme deficiencies.