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
Peroksidiioneja is an inherited disorder, usually transmitted in an autosomal recessive pattern. This means that an