Peroxisomal Biogenesis Disorder
Peroxisomal Biogenesis Disorder (PBD) is a rare genetic condition that affects the formation and function of peroxisomes, which are small organelles in cells responsible for breaking down fatty acids and detoxifying harmful substances. PBD is caused by mutations in genes that are essential for the development of peroxisomes, leading to a variety of health issues.
Individuals with PBD may experience neurological problems, liver dysfunction, and developmental delays. The disorder is often diagnosed in infancy or early childhood, and its severity can vary widely. Treatment focuses on managing symptoms and improving quality of life, as there is currently no cure for PBD.