peroxisomal biogenesis disorders
Peroxisomal biogenesis disorders are a group of rare genetic conditions that affect the formation and function of peroxisomes, which are small organelles in cells responsible for breaking down fatty acids and detoxifying harmful substances. These disorders can lead to a variety of health issues, including neurological problems, liver dysfunction, and developmental delays, depending on the specific type of disorder.
The most common type of peroxisomal biogenesis disorder is Zellweger syndrome, which is characterized by severe neurological impairment and other systemic issues. Diagnosis typically involves genetic testing and biochemical analysis, while treatment focuses on managing symptoms and improving quality of life, as there is currently no cure for these disorders.