Enzimbetegségek

Enzimbetegségek, also known as inborn errors of metabolism, are a group of genetic disorders that occur when an enzyme is not functioning properly. Enzymes are proteins that help speed up chemical reactions in the body. When an enzyme is faulty or missing, these reactions can slow down or stop altogether, leading to a buildup of toxic substances or a deficiency of essential substances.

Most enzimbetegségek are inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of a faulty gene, one from each parent, to develop the condition. However, some enzimbetegségek can be inherited in an autosomal dominant or X-linked pattern. The specific symptoms and severity of enzimbetegségek vary widely depending on the enzyme affected and the extent of its dysfunction.

Common symptoms can include developmental delays, intellectual disability, seizures, feeding difficulties, liver or spleen enlargement, and distinctive physical features. Diagnosis often involves biochemical tests that measure the levels of specific substances in the blood, urine, or other bodily fluids, as well as genetic testing. Treatment approaches vary depending on the specific enzimbetegség and may include dietary modifications, enzyme replacement therapy, or medication to manage symptoms. Early diagnosis and intervention are crucial for improving outcomes and preventing long-term complications.