Peroksidiioneja

Peroksidiioneja is a rare and complex genetic disorder characterized by the accumulation of peroxisomes, which are organelles involved in the breakdown of very long chain fatty acids, in various tissues of the body. This condition is caused by mutations in the PEX genes, which are responsible for the assembly and function of peroxisomes. The most common symptoms of peroksidiioneja include neurological issues such as developmental delays, seizures, and movement disorders, as well as metabolic abnormalities leading to liver dysfunction and elevated levels of very long chain fatty acids in the blood.

The diagnosis of peroksidiioneja typically involves genetic testing to identify mutations in the PEX genes. There is currently no cure for this disorder, but management focuses on symptom relief and supportive care. Treatment options may include dietary modifications to reduce the intake of very long chain fatty acids, medications to manage seizures, and therapies to address liver dysfunction. Research into peroxisome biogenesis and function is ongoing, with the hope of developing more effective treatments in the future.

Peroksidiioneja is an inherited disorder, usually transmitted in an autosomal recessive pattern. This means that an individual must inherit two mutated copies of the PEX gene, one from each parent, to be affected. The prevalence of peroksidiioneja is estimated to be around 1 in 100,000 to 1 in 200,000 live births. The condition was first described in the 1980s, and since then, our understanding of its genetic basis and clinical manifestations has improved, leading to better diagnostic tools and management strategies.