Background: The pathological mechanisms underlying peroxisomal biogenesis disorders (PBD) are not fully understood and the available therapies are not sufficient. This stresses the importance of identifying biochemical markers that reflect the extent of peroxisomal dysfunction in plasma of PBD patients.
Methods: Very long chain fatty acids VLCFAs, Phytanic acid, inflammatory markers: tumor necrosis-alpha, interleukin-6, and interleukin-2 (TNF-alpha, IL-6, and IL-2), lipid peroxidation parameter malonedialdhyde (MDA), low density lipoprotein-cholesterol (LDL-C), high density lipoprotein-cholesterol (HDL-C), and catalase activity were measured.